Canonical Allele Identifier: CA292956752
Gene: SCN4A HGNC NCBI

Linked Data

dbSNP Id: rs991443967
gnomAD v2: 17-62018695-T-C
gnomAD v3: 17-63941335-T-C
gnomAD v4: 17-63941335-T-C
MyVariant Identifiers: chr17:g.62018695T>C (hg19) chr17:g.63941335T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63941335T>C , CM000679.2:g.63941335T>C GRCh38
NC_000017.10:g.62018695T>C , CM000679.1:g.62018695T>C GRCh37
NC_000017.9:g.59372427T>C NCBI36
NG_011699.1:g.36584A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000435607.3:c.4947A>G MANE Select ENSP00000396320.1:p.Glu1649=
ENST00000578147.5:c.4947A>G ENSP00000463963.1:p.Glu1649=
NM_000334.4:c.4947A>G MANE Select NP_000325.4:p.Glu1649=
XM_005257566.3:c.4947A>G XP_005257623.1:p.Glu1649=
Search 100 bp 5'
Search 100 bp 3'