Canonical Allele Identifier: CA2639315300

Gene: SCN4A

Linked Data

• gnomAD v4: 17-63947019-A-ACCCCCC

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63947023_63947024insCCCCCC , CM000679.2:g.63947023_63947024insCCCCCC	GRCh38
NC_000017.10:g.62024383_62024384insCCCCCC , CM000679.1:g.62024383_62024384insCCCCCC	GRCh37
NC_000017.9:g.59378115_59378116insCCCCCC	NCBI36
NG_011699.1:g.30899_30900insGGGGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435607.3:c.3441+25_3441+26insGGGGGG MANE Select	ENSP00000396320.1:n.3441+25_3441+26insGGGGGG
ENST00000578147.5:c.3441+25_3441+26insGGGGGG	ENSP00000463963.1:n.3441+25_3441+26insGGGGGG
NM_000334.4:c.3441+25_3441+26insGGGGGG MANE Select	NP_000325.4:n.3441+25_3441+26insGGGGGG
XM_005257566.3:c.3441+25_3441+26insGGGGGG	XP_005257623.1:n.3441+25_3441+26insGGGGGG