Canonical Allele Identifier: CA400620815
Gene: SCN4A HGNC NCBI

Linked Data

ClinVar Variation Id: 2859075
ClinVar RCV Id: RCV003616872
dbSNP Id: rs1285493044
gnomAD v2: 17-62024518-T-C
MyVariant Identifiers: chr17:g.62024518T>C (hg19) chr17:g.63947158T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63947158T>C , CM000679.2:g.63947158T>C GRCh38
NC_000017.10:g.62024518T>C , CM000679.1:g.62024518T>C GRCh37
NC_000017.9:g.59378250T>C NCBI36
NG_011699.1:g.30761A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000435607.3:c.3328A>G MANE Select ENSP00000396320.1:p.Ile1110Val
ENST00000578147.5:c.3328A>G ENSP00000463963.1:p.Ile1110Val
NM_000334.4:c.3328A>G MANE Select NP_000325.4:p.Ile1110Val
XM_005257566.3:c.3328A>G XP_005257623.1:p.Ile1110Val
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