Canonical Allele Identifier: CA2639312625
Gene: SCN4A HGNC NCBI

Linked Data

gnomAD v4: 17-63972540-A-T
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63972540A>T , CM000679.2:g.63972540A>T GRCh38
NC_000017.10:g.62049900A>T , CM000679.1:g.62049900A>T GRCh37
NC_000017.9:g.59403632A>T NCBI36
NG_011699.1:g.5379T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000435607.3:c.273+29T>A MANE Select ENSP00000396320.1:n.273+29T>A
ENST00000578147.5:c.273+29T>A ENSP00000463963.1:n.273+29T>A
NM_000334.4:c.273+29T>A MANE Select NP_000325.4:n.273+29T>A
XM_005257566.3:c.273+29T>A XP_005257623.1:n.273+29T>A
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