Canonical Allele Identifier: CA2639314753

Gene: SCN4A

Linked Data

• gnomAD v4: 17-63947008-A-AAACCCCCCCC

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63947008_63947009insAACCCCCCCC , CM000679.2:g.63947008_63947009insAACCCCCCCC	GRCh38
NC_000017.10:g.62024368_62024369insAACCCCCCCC , CM000679.1:g.62024368_62024369insAACCCCCCCC	GRCh37
NC_000017.9:g.59378100_59378101insAACCCCCCCC	NCBI36
NG_011699.1:g.30910_30911insGGGGGGGGTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435607.3:c.3441+36_3441+37insGGGGGGGGTT MANE Select	ENSP00000396320.1:n.3441+36_3441+37insGGGGGGGGTT
ENST00000578147.5:c.3441+36_3441+37insGGGGGGGGTT	ENSP00000463963.1:n.3441+36_3441+37insGGGGGGGGTT
NM_000334.4:c.3441+36_3441+37insGGGGGGGGTT MANE Select	NP_000325.4:n.3441+36_3441+37insGGGGGGGGTT
XM_005257566.3:c.3441+36_3441+37insGGGGGGGGTT	XP_005257623.1:n.3441+36_3441+37insGGGGGGGGTT