Canonical Allele Identifier: CA2741548945

Gene: SCN4A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63944431A>G , CM000679.2:g.63944431A>G	GRCh38
NC_000017.10:g.62021791A>G , CM000679.1:g.62021791A>G	GRCh37
NC_000017.9:g.59375523A>G	NCBI36
NG_011699.1:g.33488T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435607.3:c.3912+242T>C MANE Select	ENSP00000396320.1:n.3912+242T>C
ENST00000578147.5:c.3916+238T>C	ENSP00000463963.1:n.3916+238T>C
NM_000334.4:c.3912+242T>C MANE Select	NP_000325.4:n.3912+242T>C
XM_005257566.3:c.3912+242T>C	XP_005257623.1:n.3912+242T>C