Canonical Allele Identifier: CA8709215
Gene: SCN4A HGNC NCBI

Linked Data

ClinVar Variation Id: 2777273
ClinVar RCV Id: RCV003615971
dbSNP Id: rs770493707

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63945431G>T , CM000679.2:g.63945431G>T GRCh38
NC_000017.10:g.62022791G>T , CM000679.1:g.62022791G>T GRCh37
NC_000017.9:g.59376523G>T NCBI36
NG_011699.1:g.32488C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000435607.3:c.3649C>A MANE Select ENSP00000396320.1:p.Gln1217Lys
ENST00000578147.5:c.3649C>A ENSP00000463963.1:p.Gln1217Lys
NM_000334.4:c.3649C>A MANE Select NP_000325.4:p.Gln1217Lys
XM_005257566.3:c.3649C>A XP_005257623.1:p.Gln1217Lys