HGVS-compliant variant descriptions

(alignment method = splign)

Type Variant description Links
Transcript (:c.) NM_001166290.1:c.-16-179A>G
RefSeqGene (:g.) RefSeqGene record not available RefSeqGene record not available
Predicted effect on protein (:p.) NP_001159762.1:p.?
Predicted effect on protein (:p.) NP_001159762.1:p.?
Variant description Genome Build: Chr: Pos: Ref: Alt Links
NC_000011.10:g.17388025T>C GRCh38:11:17388025:T:C
NC_000011.9:g.17409572T>C GRCh37:11:17409572:T:C

Recommended variant descriptions

View recommended variant descriptions in UCSC Genome Browser

  1. We recommend using a genomic and a transcript description in all publications
  2. We currently recommend that RefSeqGene descriptions should be used when possible

Genomic descriptions

Reference sequence type Variant description
RefSeqGene No RefSeqGene record corresponding to transcript NM_001166290.1
Chromosomal GRCh38 NC_000011.10:g.17388025T>C

Transcript description(s)

Reference sequence type Variant description
RefSeqGene No RefSeqGene record corresponding to transcript NM_001166290.1
Chromosomal GRCh38 NC_000011.10(NM_001166290.1):c.-16-179A>G

Unable to provide variant descriptions with respect to the RefSeqGene sequence because:

  • No RefSeqGene has been created for the KCNJ11 gene;
  • Or, Transcript NM_001166290.1 has not been annotated in the RefSeqGene record for the KCNJ11 gene

Transcript-level variants overlapping genome coordinates NC_000011.10:17388025


Genomic coordinates (VCF) with respect to genome build GRCh38

11-17388025-T-C


Aggregated data sources and clinical significance

VariantValidator

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