Canonical Allele Identifier: CA400613096

Gene: SCN4A

Linked Data

• dbSNP Id: rs1369287626
• gnomAD v2: 17-62018371-G-T
• gnomAD v4: 17-63941011-G-T
• MyVariant Identifiers: chr17:g.62018371G>T (hg19) ; chr17:g.63941011G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63941011G>T , CM000679.2:g.63941011G>T	GRCh38
NC_000017.10:g.62018371G>T , CM000679.1:g.62018371G>T	GRCh37
NC_000017.9:g.59372103G>T	NCBI36
NG_011699.1:g.36908C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435607.3:c.5271C>A MANE Select	ENSP00000396320.1:p.Ser1757Arg
ENST00000578147.5:c.5271C>A	ENSP00000463963.1:p.Ser1757Arg
NM_000334.4:c.5271C>A MANE Select	NP_000325.4:p.Ser1757Arg
XM_005257566.3:c.5271C>A	XP_005257623.1:p.Ser1757Arg