Canonical Allele Identifier: CA2639314275

Gene: SCN4A

Linked Data

• gnomAD v4: 17-63947002-T-TCCCCCAAACCCACCCCC

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63947008_63947009insAACCCACCCCCCCCCCA , CM000679.2:g.63947008_63947009insAACCCACCCCCCCCCCA	GRCh38
NC_000017.10:g.62024368_62024369insAACCCACCCCCCCCCCA , CM000679.1:g.62024368_62024369insAACCCACCCCCCCCCCA	GRCh37
NC_000017.9:g.59378100_59378101insAACCCACCCCCCCCCCA	NCBI36
NG_011699.1:g.30916_30917insGGGGGTGGGTTTGGGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435607.3:c.3441+42_3441+43insGGGGGTGGGTTTGGGGG MANE Select	ENSP00000396320.1:n.3441+42_3441+43insGGGGGTGGGTTTGGGGG
ENST00000578147.5:c.3441+42_3441+43insGGGGGTGGGTTTGGGGG	ENSP00000463963.1:n.3441+42_3441+43insGGGGGTGGGTTTGGGGG
NM_000334.4:c.3441+42_3441+43insGGGGGTGGGTTTGGGGG MANE Select	NP_000325.4:n.3441+42_3441+43insGGGGGTGGGTTTGGGGG
XM_005257566.3:c.3441+42_3441+43insGGGGGTGGGTTTGGGGG	XP_005257623.1:n.3441+42_3441+43insGGGGGTGGGTTTGGGGG