Canonical Allele Identifier: CA400636941
Community Standard Title: NM_000334.4(SCN4A):c.1037-1G>A
Gene: SCN4A HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63966545C>T , CM000679.2:g.63966545C>T GRCh38
NC_000017.10:g.62043905C>T , CM000679.1:g.62043905C>T GRCh37
NC_000017.9:g.59397637C>T NCBI36
NG_011699.1:g.11374G>A

Transcript Alleles

HGVS Amino-acid Change
NM_000334.4:c.1037-1G>A MANE Select NP_000325.4:n.1037-1G>A
ENST00000435607.3:c.1037-1G>A MANE Select ENSP00000396320.1:n.1037-1G>A
ENST00000578147.5:c.1037-1G>A ENSP00000463963.1:n.1037-1G>A
XM_005257566.3:c.1037-1G>A XP_005257623.1:n.1037-1G>A
XR_001752969.1:n.1594C>T
XR_001752970.1:n.546C>T
XR_934910.1:n.317C>T
XR_934910.2:n.1469C>T
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