Canonical Allele Identifier: CA8710304

Gene: SCN4A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63972796A>T , CM000679.2:g.63972796A>T	GRCh38
NC_000017.10:g.62050156A>T , CM000679.1:g.62050156A>T	GRCh37
NC_000017.9:g.59403888A>T	NCBI36
NG_011699.1:g.5123T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000334.4:c.46T>A MANE Select	NP_000325.4:p.Cys16Ser
ENST00000435607.3:c.46T>A MANE Select	ENSP00000396320.1:p.Cys16Ser
ENST00000578147.5:c.46T>A	ENSP00000463963.1:p.Cys16Ser
XM_005257566.3:c.46T>A	XP_005257623.1:p.Cys16Ser