Canonical Allele Identifier: CA626860774

Gene: SCN4A

Linked Data

• dbSNP Id: rs1265798882
• gnomAD v2: 17-62019658-A-T
• gnomAD v3: 17-63942298-A-T
• gnomAD v4: 17-63942298-A-T
• MyVariant Identifiers: chr17:g.62019658A>T (hg19) ; chr17:g.63942298A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63942298A>T , CM000679.2:g.63942298A>T	GRCh38
NC_000017.10:g.62019658A>T , CM000679.1:g.62019658A>T	GRCh37
NC_000017.9:g.59373390A>T	NCBI36
NG_011699.1:g.35621T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435607.3:c.4289-305T>A MANE Select	ENSP00000396320.1:n.4289-305T>A
ENST00000578147.5:c.4289-305T>A	ENSP00000463963.1:n.4289-305T>A
NM_000334.4:c.4289-305T>A MANE Select	NP_000325.4:n.4289-305T>A
XM_005257566.3:c.4289-305T>A	XP_005257623.1:n.4289-305T>A