Canonical Allele Identifier: CA2639322833

Gene: SCN4A

Linked Data

• gnomAD v4: 17-63941195-GCGTC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63941197_63941200del , CM000679.2:g.63941197_63941200del	GRCh38
NC_000017.10:g.62018557_62018560del , CM000679.1:g.62018557_62018560del	GRCh37
NC_000017.9:g.59372289_59372292del	NCBI36
NG_011699.1:g.36720_36723del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435607.3:c.5083_5086del MANE Select	ENSP00000396320.1:p.Asp1695ProfsTer?
ENST00000578147.5:c.5083_5086del	ENSP00000463963.1:p.Asp1695ProfsTer?
NM_000334.4:c.5083_5086del MANE Select	NP_000325.4:p.Asp1695ProfsTer?
XM_005257566.3:c.5083_5086del	XP_005257623.1:p.Asp1695ProfsTer?