HGVS-compliant variant descriptions

(alignment method = splign)

Type Variant description Links
Transcript (:c.) NM_001177800.1:c.-9+3481G>A
RefSeqGene (:g.) NG_021140.1:g.11415G>A
Predicted effect on protein (:p.) NP_001171271.1:p.?
Predicted effect on protein (:p.) NP_001171271.1:p.?
Variant description Genome Build: Chr: Pos: Ref: Alt Links
NC_000003.11:g.186566877G>A GRCh37:3:186566877:G:A
NC_000003.12:g.186849088G>A GRCh38:3:186849088:G:A

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 NG_021140.1:g.11415G>A
Chromosomal GRCh38 NC_000003.12:g.186849088G>A

Transcript description(s)

Reference sequence type Variant description
RefSeqGene NG_021140.1(NM_001177800.1):c.-9+3481G>A
Chromosomal GRCh38 NC_000003.12(NM_001177800.1):c.-9+3481G>A

Transcript-level variants overlapping genome coordinates NC_000003.12:186849088


Genomic coordinates (VCF) with respect to genome build GRCh38

3-186849088-G-A


Aggregated data sources and clinical significance

VariantValidator

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