Canonical Allele Identifier: CA2639315005

Gene: SCN4A

Linked Data

• gnomAD v4: 17-63947012-C-CCCCCCCCCCCCCCAGGCCCCAT

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63947013_63947014insCCCCCCCCCCCCAGGCCCCATC , CM000679.2:g.63947013_63947014insCCCCCCCCCCCCAGGCCCCATC	GRCh38
NC_000017.10:g.62024373_62024374insCCCCCCCCCCCCAGGCCCCATC , CM000679.1:g.62024373_62024374insCCCCCCCCCCCCAGGCCCCATC	GRCh37
NC_000017.9:g.59378105_59378106insCCCCCCCCCCCCAGGCCCCATC	NCBI36
NG_011699.1:g.30906_30907insATGGGGCCTGGGGGGGGGGGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435607.3:c.3441+32_3441+33insATGGGGCCTGGGGGGGGGGGGG MANE Select	ENSP00000396320.1:n.3441+32_3441+33insATGGGGCCTGGGGGGGGGGGGG
ENST00000578147.5:c.3441+32_3441+33insATGGGGCCTGGGGGGGGGGGGG	ENSP00000463963.1:n.3441+32_3441+33insATGGGGCCTGGGGGGGGGGGGG
NM_000334.4:c.3441+32_3441+33insATGGGGCCTGGGGGGGGGGGGG MANE Select	NP_000325.4:n.3441+32_3441+33insATGGGGCCTGGGGGGGGGGGGG
XM_005257566.3:c.3441+32_3441+33insATGGGGCCTGGGGGGGGGGGGG	XP_005257623.1:n.3441+32_3441+33insATGGGGCCTGGGGGGGGGGGGG