Canonical Allele Identifier: CA2810128105

Gene: SCN4A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63972054A>G , CM000679.2:g.63972054A>G	GRCh38
NC_000017.10:g.62049414A>G , CM000679.1:g.62049414A>G	GRCh37
NC_000017.9:g.59403146A>G	NCBI36
NG_011699.1:g.5865T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435607.3:c.482+82T>C MANE Select	ENSP00000396320.1:n.482+82T>C
ENST00000578147.5:c.482+82T>C	ENSP00000463963.1:n.482+82T>C
NM_000334.4:c.482+82T>C MANE Select	NP_000325.4:n.482+82T>C
XM_005257566.3:c.482+82T>C	XP_005257623.1:n.482+82T>C