Canonical Allele Identifier: CA8708814

Gene: SCN4A

Linked Data

• dbSNP Id: rs368626384
• ExAC: 17:62018430 A / C
• gnomAD v2: 17-62018430-A-C
• gnomAD v3: 17-63941070-A-C
• gnomAD v4: 17-63941070-A-C
• MyVariant Identifiers: chr17:g.62018430A>C (hg19) ; chr17:g.63941070A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63941070A>C , CM000679.2:g.63941070A>C	GRCh38
NC_000017.10:g.62018430A>C , CM000679.1:g.62018430A>C	GRCh37
NC_000017.9:g.59372162A>C	NCBI36
NG_011699.1:g.36849T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435607.3:c.5212T>G MANE Select	ENSP00000396320.1:p.Tyr1738Asp
ENST00000578147.5:c.5212T>G	ENSP00000463963.1:p.Tyr1738Asp
NM_000334.4:c.5212T>G MANE Select	NP_000325.4:p.Tyr1738Asp
XM_005257566.3:c.5212T>G	XP_005257623.1:p.Tyr1738Asp