Canonical Allele Identifier: CA2576355676

Gene: SCN4A

Linked Data

• gnomAD v4: 17-63947247-GACTC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63947250_63947253del , CM000679.2:g.63947250_63947253del	GRCh38
NC_000017.10:g.62024610_62024613del , CM000679.1:g.62024610_62024613del	GRCh37
NC_000017.9:g.59378342_59378345del	NCBI36
NG_011699.1:g.30668_30671del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435607.3:c.3319-84_3319-81del MANE Select	ENSP00000396320.1:n.3319-84_3319-81del
ENST00000578147.5:c.3319-84_3319-81del	ENSP00000463963.1:n.3319-84_3319-81del
NM_000334.4:c.3319-84_3319-81del MANE Select	NP_000325.4:n.3319-84_3319-81del
XM_005257566.3:c.3319-84_3319-81del	XP_005257623.1:n.3319-84_3319-81del