Canonical Allele Identifier: CA292972535

Gene: SCN4A

Linked Data

• dbSNP Id: rs900167913
• gnomAD v2: 17-62048479-G-T
• gnomAD v4: 17-63971119-G-T
• MyVariant Identifiers: chr17:g.62048479G>T (hg19) ; chr17:g.63971119G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63971119G>T , CM000679.2:g.63971119G>T	GRCh38
NC_000017.10:g.62048479G>T , CM000679.1:g.62048479G>T	GRCh37
NC_000017.9:g.59402211G>T	NCBI36
NG_011699.1:g.6800C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435607.3:c.703+43C>A MANE Select	ENSP00000396320.1:n.703+43C>A
ENST00000578147.5:c.703+43C>A	ENSP00000463963.1:n.703+43C>A
NM_000334.4:c.703+43C>A MANE Select	NP_000325.4:n.703+43C>A
XM_005257566.3:c.703+43C>A	XP_005257623.1:n.703+43C>A