Canonical Allele Identifier: CA400619461
Gene: SCN4A HGNC NCBI

Linked Data

ClinVar Variation Id: 1039768
ClinVar RCV Id: RCV001343311
dbSNP Id: rs778176181

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63947092G>C , CM000679.2:g.63947092G>C GRCh38
NC_000017.10:g.62024452G>C , CM000679.1:g.62024452G>C GRCh37
NC_000017.9:g.59378184G>C NCBI36
NG_011699.1:g.30827C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000435607.3:c.3394C>G MANE Select ENSP00000396320.1:p.Arg1132Gly
ENST00000578147.5:c.3394C>G ENSP00000463963.1:p.Arg1132Gly
NM_000334.4:c.3394C>G MANE Select NP_000325.4:p.Arg1132Gly
XM_005257566.3:c.3394C>G XP_005257623.1:p.Arg1132Gly