Canonical Allele Identifier: CA2639321748

Gene: SCN4A

Linked Data

• gnomAD v4: 17-63940970-A-AT

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63940970_63940971insT , CM000679.2:g.63940970_63940971insT	GRCh38
NC_000017.10:g.62018330_62018331insT , CM000679.1:g.62018330_62018331insT	GRCh37
NC_000017.9:g.59372062_59372063insT	NCBI36
NG_011699.1:g.36948_36949insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435607.3:c.5311_5312insA MANE Select	ENSP00000396320.1:p.Leu1771HisfsTer?
ENST00000578147.5:c.5311_5312insA	ENSP00000463963.1:p.Leu1771HisfsTer?
NM_000334.4:c.5311_5312insA MANE Select	NP_000325.4:p.Leu1771HisfsTer?
XM_005257566.3:c.5311_5312insA	XP_005257623.1:p.Leu1771HisfsTer?