Canonical Allele Identifier: CA400618334
Gene: SCN4A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63945561G>C , CM000679.2:g.63945561G>C GRCh38
NC_000017.10:g.62022921G>C , CM000679.1:g.62022921G>C GRCh37
NC_000017.9:g.59376653G>C NCBI36
NG_011699.1:g.32358C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000435607.3:c.3519C>G MANE Select ENSP00000396320.1:p.Ile1173Met
ENST00000578147.5:c.3519C>G ENSP00000463963.1:p.Ile1173Met
NM_000334.4:c.3519C>G MANE Select NP_000325.4:p.Ile1173Met
XM_005257566.3:c.3519C>G XP_005257623.1:p.Ile1173Met