Canonical Allele Identifier: CA774007496
Gene: SCN4A HGNC NCBI

Linked Data

dbSNP Id: rs1467987038
gnomAD v3: 17-63942258-G-GTT
gnomAD v4: 17-63942258-G-GTT
MyVariant Identifiers: chr17:g.62019618_62019619insTT (hg19) chr17:g.63942258_63942259insTT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63942258_63942259insTT , CM000679.2:g.63942258_63942259insTT GRCh38
NC_000017.10:g.62019618_62019619insTT , CM000679.1:g.62019618_62019619insTT GRCh37
NC_000017.9:g.59373350_59373351insTT NCBI36
NG_011699.1:g.35660_35661insAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000435607.3:c.4289-266_4289-265insAA MANE Select ENSP00000396320.1:n.4289-266_4289-265insAA
ENST00000578147.5:c.4289-266_4289-265insAA ENSP00000463963.1:n.4289-266_4289-265insAA
NM_000334.4:c.4289-266_4289-265insAA MANE Select NP_000325.4:n.4289-266_4289-265insAA
XM_005257566.3:c.4289-266_4289-265insAA XP_005257623.1:n.4289-266_4289-265insAA
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