Canonical Allele Identifier: CA985428721
Gene: SCN4A HGNC NCBI

Linked Data

dbSNP Id: rs1908676153
gnomAD v3: 17-63945279-CTG-C
gnomAD v4: 17-63945279-CTG-C
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63945280_63945281del , CM000679.2:g.63945280_63945281del GRCh38
NC_000017.10:g.62022640_62022641del , CM000679.1:g.62022640_62022641del GRCh37
NC_000017.9:g.59376372_59376373del NCBI36
NG_011699.1:g.32638_32639del

Transcript Alleles

HGVS Amino-acid Change
ENST00000435607.3:c.3720+79_3720+80del MANE Select ENSP00000396320.1:n.3720+79_3720+80del
ENST00000578147.5:c.3720+79_3720+80del ENSP00000463963.1:n.3720+79_3720+80del
NM_000334.4:c.3720+79_3720+80del MANE Select NP_000325.4:n.3720+79_3720+80del
XM_005257566.3:c.3720+79_3720+80del XP_005257623.1:n.3720+79_3720+80del
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