Canonical Allele Identifier: CA400633293
Gene: SCN4A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63961308T>C , CM000679.2:g.63961308T>C GRCh38
NC_000017.10:g.62038668T>C , CM000679.1:g.62038668T>C GRCh37
NC_000017.9:g.59392400T>C NCBI36
NG_011699.1:g.16611A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000435607.3:c.1730A>G MANE Select ENSP00000396320.1:p.Asp577Gly
ENST00000578147.5:c.1730A>G ENSP00000463963.1:p.Asp577Gly
ENST00000581514.1:n.386A>G
NM_000334.4:c.1730A>G MANE Select NP_000325.4:p.Asp577Gly
XM_005257566.3:c.1730A>G XP_005257623.1:p.Asp577Gly
XR_934910.1:n.124+586T>C
XR_001752969.1:n.1276+586T>C
XR_934910.2:n.1276+586T>C