Canonical Allele Identifier: CA400633731
Gene: SCN4A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63961371A>G , CM000679.2:g.63961371A>G GRCh38
NC_000017.10:g.62038731A>G , CM000679.1:g.62038731A>G GRCh37
NC_000017.9:g.59392463A>G NCBI36
NG_011699.1:g.16548T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000435607.3:c.1667T>C MANE Select ENSP00000396320.1:p.Leu556Pro
ENST00000578147.5:c.1667T>C ENSP00000463963.1:p.Leu556Pro
ENST00000581514.1:n.323T>C
NM_000334.4:c.1667T>C MANE Select NP_000325.4:p.Leu556Pro
XM_005257566.3:c.1667T>C XP_005257623.1:p.Leu556Pro
XR_934910.1:n.124+649A>G
XR_001752969.1:n.1276+649A>G
XR_934910.2:n.1276+649A>G