Canonical Allele Identifier: CA2270163875

Gene: SCN4A

Linked Data

• dbSNP Id: rs1908756906
• gnomAD v4: 17-63947290-GGGTGGTCCTGTCC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63947296_63947308del , CM000679.2:g.63947296_63947308del	GRCh38
NC_000017.10:g.62024656_62024668del , CM000679.1:g.62024656_62024668del	GRCh37
NC_000017.9:g.59378388_59378400del	NCBI36
NG_011699.1:g.30616_30628del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435607.3:c.3319-136_3319-124del MANE Select	ENSP00000396320.1:n.3319-136_3319-124del
ENST00000578147.5:c.3319-136_3319-124del	ENSP00000463963.1:n.3319-136_3319-124del
NM_000334.4:c.3319-136_3319-124del MANE Select	NP_000325.4:n.3319-136_3319-124del
XM_005257566.3:c.3319-136_3319-124del	XP_005257623.1:n.3319-136_3319-124del