Canonical Allele Identifier: CA2639316111
Gene: SCN4A HGNC NCBI

Linked Data

gnomAD v4: 17-63959193-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63959193C>A , CM000679.2:g.63959193C>A GRCh38
NC_000017.10:g.62036553C>A , CM000679.1:g.62036553C>A GRCh37
NC_000017.9:g.59390285C>A NCBI36
NG_011699.1:g.18726G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000435607.3:c.2019+72G>T MANE Select ENSP00000396320.1:n.2019+72G>T
ENST00000578147.5:c.2019+72G>T ENSP00000463963.1:n.2019+72G>T
NM_000334.4:c.2019+72G>T MANE Select NP_000325.4:n.2019+72G>T
XM_005257566.3:c.2019+72G>T XP_005257623.1:n.2019+72G>T
Search 100 bp 5'
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