Canonical Allele Identifier: CA774008617
Gene: SCN4A HGNC NCBI

Linked Data

dbSNP Id: rs1290872567
gnomAD v3: 17-63944369-TG-T
gnomAD v4: 17-63944369-TG-T
MyVariant Identifiers: chr17:g.62021730del (hg19) chr17:g.63944370del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63944371del , CM000679.2:g.63944371del GRCh38
NC_000017.10:g.62021731del , CM000679.1:g.62021731del GRCh37
NC_000017.9:g.59375463del NCBI36
NG_011699.1:g.33549del

Transcript Alleles

HGVS Amino-acid Change
ENST00000435607.3:c.3912+303del MANE Select ENSP00000396320.1:n.3912+303del
ENST00000578147.5:c.3916+299del ENSP00000463963.1:n.3916+299del
NM_000334.4:c.3912+303del MANE Select NP_000325.4:n.3912+303del
XM_005257566.3:c.3912+303del XP_005257623.1:n.3912+303del
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