Canonical Allele Identifier: CA2639312067
Gene: SCN4A HGNC NCBI

Linked Data

gnomAD v4: 17-63945476-CGGA-C
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63945478_63945480del , CM000679.2:g.63945478_63945480del GRCh38
NC_000017.10:g.62022838_62022840del , CM000679.1:g.62022838_62022840del GRCh37
NC_000017.9:g.59376570_59376572del NCBI36
NG_011699.1:g.32440_32442del

Transcript Alleles

HGVS Amino-acid Change
ENST00000435607.3:c.3601_3603del MANE Select ENSP00000396320.1:p.Ser1201del
ENST00000578147.5:c.3601_3603del ENSP00000463963.1:p.Ser1201del
NM_000334.4:c.3601_3603del MANE Select NP_000325.4:p.Ser1201del
XM_005257566.3:c.3601_3603del XP_005257623.1:p.Ser1201del
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