Canonical Allele Identifier: CA8709542

Gene: SCN4A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63951654G>A , CM000679.2:g.63951654G>A	GRCh38
NC_000017.10:g.62029014G>A , CM000679.1:g.62029014G>A	GRCh37
NC_000017.9:g.59382746G>A	NCBI36
NG_011699.1:g.26265C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000334.4:c.2623C>T MANE Select	NP_000325.4:p.Pro875Ser
ENST00000435607.3:c.2623C>T MANE Select	ENSP00000396320.1:p.Pro875Ser
ENST00000578147.5:c.2623C>T	ENSP00000463963.1:p.Pro875Ser
XM_005257566.3:c.2623C>T	XP_005257623.1:p.Pro875Ser