Canonical Allele Identifier: CA2639316075
Gene: SCN4A HGNC NCBI

Linked Data

gnomAD v4: 17-63959172-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63959172T>C , CM000679.2:g.63959172T>C GRCh38
NC_000017.10:g.62036532T>C , CM000679.1:g.62036532T>C GRCh37
NC_000017.9:g.59390264T>C NCBI36
NG_011699.1:g.18747A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000435607.3:c.2019+93A>G MANE Select ENSP00000396320.1:n.2019+93A>G
ENST00000578147.5:c.2019+93A>G ENSP00000463963.1:n.2019+93A>G
NM_000334.4:c.2019+93A>G MANE Select NP_000325.4:n.2019+93A>G
XM_005257566.3:c.2019+93A>G XP_005257623.1:n.2019+93A>G
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