Canonical Allele Identifier: CA2639312633
Gene: SCN4A HGNC NCBI

Linked Data

gnomAD v4: 17-63972543-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63972543C>T , CM000679.2:g.63972543C>T GRCh38
NC_000017.10:g.62049903C>T , CM000679.1:g.62049903C>T GRCh37
NC_000017.9:g.59403635C>T NCBI36
NG_011699.1:g.5376G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000435607.3:c.273+26G>A MANE Select ENSP00000396320.1:n.273+26G>A
ENST00000578147.5:c.273+26G>A ENSP00000463963.1:n.273+26G>A
NM_000334.4:c.273+26G>A MANE Select NP_000325.4:n.273+26G>A
XM_005257566.3:c.273+26G>A XP_005257623.1:n.273+26G>A
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