Canonical Allele Identifier: CA2639316094
Gene: SCN4A HGNC NCBI

Linked Data

gnomAD v4: 17-63959187-T-A
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63959187T>A , CM000679.2:g.63959187T>A GRCh38
NC_000017.10:g.62036547T>A , CM000679.1:g.62036547T>A GRCh37
NC_000017.9:g.59390279T>A NCBI36
NG_011699.1:g.18732A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000435607.3:c.2019+78A>T MANE Select ENSP00000396320.1:n.2019+78A>T
ENST00000578147.5:c.2019+78A>T ENSP00000463963.1:n.2019+78A>T
NM_000334.4:c.2019+78A>T MANE Select NP_000325.4:n.2019+78A>T
XM_005257566.3:c.2019+78A>T XP_005257623.1:n.2019+78A>T
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