Canonical Allele Identifier: CA501348675
Gene: SCN4A HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.62022870G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63945510G>A , CM000679.2:g.63945510G>A GRCh38
NC_000017.10:g.62022870G>A , CM000679.1:g.62022870G>A GRCh37
NC_000017.9:g.59376602G>A NCBI36
NG_011699.1:g.32409C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000435607.3:c.3570C>T MANE Select ENSP00000396320.1:p.Ile1190=
ENST00000578147.5:c.3570C>T ENSP00000463963.1:p.Ile1190=
NM_000334.4:c.3570C>T MANE Select NP_000325.4:p.Ile1190=
XM_005257566.3:c.3570C>T XP_005257623.1:p.Ile1190=