Canonical Allele Identifier: CA626861045

Gene: SCN4A

Linked Data

• dbSNP Id: rs1315296755
• gnomAD v2: 17-62023007-C-CA
• gnomAD v4: 17-63945647-C-CA
• MyVariant Identifiers: chr17:g.62023007_62023008insA (hg19) ; chr17:g.63945647_63945648insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63945648dup , CM000679.2:g.63945648dup	GRCh38
NC_000017.10:g.62023008dup , CM000679.1:g.62023008dup	GRCh37
NC_000017.9:g.59376740dup	NCBI36
NG_011699.1:g.32271dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435607.3:c.3442-10dup MANE Select	ENSP00000396320.1:n.3442-10dup
ENST00000578147.5:c.3442-10dup	ENSP00000463963.1:n.3442-10dup
NM_000334.4:c.3442-10dup MANE Select	NP_000325.4:n.3442-10dup
XM_005257566.3:c.3442-10dup	XP_005257623.1:n.3442-10dup