Canonical Allele Identifier: CA8709555
Community Standard Title: NM_000334.4(SCN4A):c.2593G>C (p.Gly865Arg)
Gene: SCN4A HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63951684C>G , CM000679.2:g.63951684C>G GRCh38
NC_000017.10:g.62029044C>G , CM000679.1:g.62029044C>G GRCh37
NC_000017.9:g.59382776C>G NCBI36
NG_011699.1:g.26235G>C

Transcript Alleles

HGVS Amino-acid Change
NM_000334.4:c.2593G>C MANE Select NP_000325.4:p.Gly865Arg
ENST00000435607.3:c.2593G>C MANE Select ENSP00000396320.1:p.Gly865Arg
ENST00000578147.5:c.2593G>C ENSP00000463963.1:p.Gly865Arg
XM_005257566.3:c.2593G>C XP_005257623.1:p.Gly865Arg
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