Canonical Allele Identifier: CA292956520

Gene: SCN4A

Linked Data

• ClinVar Variation Id: 645260
• ClinVar RCV Id: RCV000799308 ; RCV003166177 ; RCV002477828
• dbSNP Id: rs1045422843
• gnomAD v2: 17-62018515-G-T
• gnomAD v3: 17-63941155-G-T
• gnomAD v4: 17-63941155-G-T
• MyVariant Identifiers: chr17:g.62018515G>T (hg19) ; chr17:g.63941155G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63941155G>T , CM000679.2:g.63941155G>T	GRCh38
NC_000017.10:g.62018515G>T , CM000679.1:g.62018515G>T	GRCh37
NC_000017.9:g.59372247G>T	NCBI36
NG_011699.1:g.36764C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435607.3:c.5127C>A MANE Select	ENSP00000396320.1:p.Asn1709Lys
ENST00000578147.5:c.5127C>A	ENSP00000463963.1:p.Asn1709Lys
NM_000334.4:c.5127C>A MANE Select	NP_000325.4:p.Asn1709Lys
XM_005257566.3:c.5127C>A	XP_005257623.1:p.Asn1709Lys