Canonical Allele Identifier: CA2639312574

Gene: SCN4A

Linked Data

• gnomAD v4: 17-63972513-A-AGGCAGACAGATGGATGGAT

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63972524_63972542dup , CM000679.2:g.63972524_63972542dup	GRCh38
NC_000017.10:g.62049884_62049902dup , CM000679.1:g.62049884_62049902dup	GRCh37
NC_000017.9:g.59403616_59403634dup	NCBI36
NG_011699.1:g.5387_5405dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000435607.3:c.273+37_274-44dup MANE Select	ENSP00000396320.1:n.273+37_274-44dup
ENST00000578147.5:c.273+37_274-44dup	ENSP00000463963.1:n.273+37_274-44dup
NM_000334.4:c.273+37_274-44dup MANE Select	NP_000325.4:n.273+37_274-44dup
XM_005257566.3:c.273+37_274-44dup	XP_005257623.1:n.273+37_274-44dup