Canonical Allele Identifier: CA400614287

Gene: SCN4A

Linked Data

• dbSNP Id: rs1226397635
• gnomAD v2: 17-62018604-G-A
• gnomAD v4: 17-63941244-G-A
• MyVariant Identifiers: chr17:g.62018604G>A (hg19) ; chr17:g.63941244G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63941244G>A , CM000679.2:g.63941244G>A	GRCh38
NC_000017.10:g.62018604G>A , CM000679.1:g.62018604G>A	GRCh37
NC_000017.9:g.59372336G>A	NCBI36
NG_011699.1:g.36675C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435607.3:c.5038C>T MANE Select	ENSP00000396320.1:p.Leu1680Phe
ENST00000578147.5:c.5038C>T	ENSP00000463963.1:p.Leu1680Phe
NM_000334.4:c.5038C>T MANE Select	NP_000325.4:p.Leu1680Phe
XM_005257566.3:c.5038C>T	XP_005257623.1:p.Leu1680Phe