Canonical Allele Identifier: CA2270162619
Gene: SCN4A HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63945472_63945473delinsAC , CM000679.2:g.63945472_63945473delinsAC GRCh38
NC_000017.10:g.62022832_62022833delinsAC , CM000679.1:g.62022832_62022833delinsAC GRCh37
NC_000017.9:g.59376564_59376565delinsAC NCBI36
NG_011699.1:g.32446_32447delinsGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000435607.3:c.3607_3608delinsGT MANE Select ENSP00000396320.1:p.Val1203=
ENST00000578147.5:c.3607_3608delinsGT ENSP00000463963.1:p.Val1203=
NM_000334.4:c.3607_3608delinsGT MANE Select NP_000325.4:p.Val1203=
XM_005257566.3:c.3607_3608delinsGT XP_005257623.1:p.Val1203=
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