Canonical Allele Identifier: CA2596764799
Gene: SCN4A HGNC NCBI

Linked Data

gnomAD v3: 17-63945545-C-CT
gnomAD v4: 17-63945545-C-CT
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63945545_63945546insT , CM000679.2:g.63945545_63945546insT GRCh38
NC_000017.10:g.62022905_62022906insT , CM000679.1:g.62022905_62022906insT GRCh37
NC_000017.9:g.59376637_59376638insT NCBI36
NG_011699.1:g.32373_32374insA

Transcript Alleles

HGVS Amino-acid Change
ENST00000435607.3:c.3534_3535insA MANE Select ENSP00000396320.1:p.Val1179SerfsTer18
ENST00000578147.5:c.3534_3535insA ENSP00000463963.1:p.Val1179SerfsTer18
NM_000334.4:c.3534_3535insA MANE Select NP_000325.4:p.Val1179SerfsTer18
XM_005257566.3:c.3534_3535insA XP_005257623.1:p.Val1179SerfsTer18
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