Canonical Allele Identifier: CA8708973

Gene: SCN4A

Linked Data

• ClinVar Variation Id: 543813
• ClinVar RCV Id: RCV000654667 ; RCV000713112
• dbSNP Id: rs150423825
• ExAC: 17:62019252 C / T
• gnomAD v2: 17-62019252-C-T
• gnomAD v3: 17-63941892-C-T
• gnomAD v4: 17-63941892-C-T
• COSMIC: COSM6081754
• MyVariant Identifiers: chr17:g.62019252C>T (hg19) ; chr17:g.63941892C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63941892C>T , CM000679.2:g.63941892C>T	GRCh38
NC_000017.10:g.62019252C>T , CM000679.1:g.62019252C>T	GRCh37
NC_000017.9:g.59372984C>T	NCBI36
NG_011699.1:g.36027G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435607.3:c.4390G>A MANE Select	ENSP00000396320.1:p.Gly1464Arg
ENST00000578147.5:c.4390G>A	ENSP00000463963.1:p.Gly1464Arg
NM_000334.4:c.4390G>A MANE Select	NP_000325.4:p.Gly1464Arg
XM_005257566.3:c.4390G>A	XP_005257623.1:p.Gly1464Arg