Canonical Allele Identifier: CA400617318

Gene: SCN4A

Linked Data

• dbSNP Id: rs748965677
• gnomAD v2: 17-62022082-T-A
• gnomAD v4: 17-63944722-T-A
• MyVariant Identifiers: chr17:g.62022082T>A (hg19) ; chr17:g.63944722T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63944722T>A , CM000679.2:g.63944722T>A	GRCh38
NC_000017.10:g.62022082T>A , CM000679.1:g.62022082T>A	GRCh37
NC_000017.9:g.59375814T>A	NCBI36
NG_011699.1:g.33197A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435607.3:c.3863A>T MANE Select	ENSP00000396320.1:p.Asn1288Ile
ENST00000578147.5:c.3863A>T	ENSP00000463963.1:p.Asn1288Ile
NM_000334.4:c.3863A>T MANE Select	NP_000325.4:p.Asn1288Ile
XM_005257566.3:c.3863A>T	XP_005257623.1:p.Asn1288Ile