HGVS-compliant variant descriptions

(alignment method = splign)

Type Variant description Links
Transcript (:c.) NM_004260.3:c.1391-1G>A
RefSeqGene (:g.) NG_016430.1:g.7584G>A
Predicted effect on protein (:p.) NP_004251.3(LRG_277p1):p.?
Predicted effect on protein (:p.) NP_004251.3:p.?
Variant description Genome Build: Chr: Pos: Ref: Alt Links
NC_000008.10:g.145740627C>T GRCh37:8:145740627:C:T
NC_000008.11:g.144515243C>T GRCh38:8:144515243:C:T

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_016430.1:g.7584G>A
Chromosomal GRCh38 NC_000008.11:g.144515243C>T
LRG LRG_277:g.7584G>A

Transcript description(s)

Reference sequence type Variant description
RefSeqGene NG_016430.1(NM_004260.3):c.1391-1G>A
Chromosomal GRCh38 NC_000008.11(NM_004260.3):c.1391-1G>A
LRG LRG_277t1:c.1391-1G>A

The current status of LRG_277 is pending therefore changes may be made to the LRG reference sequence


Transcript-level variants overlapping genome coordinates NC_000008.11:144515243


Genomic coordinates (VCF) with respect to genome build GRCh38

8-144515243-C-T


Aggregated data sources and clinical significance

VariantValidator

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