Canonical Allele Identifier: CA2576355544
Gene: SCN4A HGNC NCBI

Linked Data

gnomAD v4: 17-63944577-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63944577G>T , CM000679.2:g.63944577G>T GRCh38
NC_000017.10:g.62021937G>T , CM000679.1:g.62021937G>T GRCh37
NC_000017.9:g.59375669G>T NCBI36
NG_011699.1:g.33342C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000435607.3:c.3912+96C>A MANE Select ENSP00000396320.1:n.3912+96C>A
ENST00000578147.5:c.3916+92C>A ENSP00000463963.1:n.3916+92C>A
NM_000334.4:c.3912+96C>A MANE Select NP_000325.4:n.3912+96C>A
XM_005257566.3:c.3912+96C>A XP_005257623.1:n.3912+96C>A
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