Canonical Allele Identifier: CA8709800
Community Standard Title: NM_000334.4(SCN4A):c.1585G>T (p.Gly529Cys)
Gene: SCN4A HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63963693C>A , CM000679.2:g.63963693C>A GRCh38
NC_000017.10:g.62041053C>A , CM000679.1:g.62041053C>A GRCh37
NC_000017.9:g.59394785C>A NCBI36
NG_011699.1:g.14226G>T

Transcript Alleles

HGVS Amino-acid Change
NM_000334.4:c.1585G>T MANE Select NP_000325.4:p.Gly529Cys
ENST00000435607.3:c.1585G>T MANE Select ENSP00000396320.1:p.Gly529Cys
ENST00000578147.5:c.1585G>T ENSP00000463963.1:p.Gly529Cys
XM_005257566.3:c.1585G>T XP_005257623.1:p.Gly529Cys
XR_001752969.1:n.1326+379C>A
XR_001752970.1:n.278+379C>A
XR_934910.1:n.174+379C>A
XR_934910.2:n.1326+379C>A
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