Canonical Allele Identifier: CA627150282
Gene: SCN4A HGNC NCBI

Linked Data

dbSNP Id: rs1283414499
gnomAD v2: 17-62022677-A-G
MyVariant Identifiers: chr17:g.62022677A>G (hg19) chr17:g.63945317A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63945317A>G , CM000679.2:g.63945317A>G GRCh38
NC_000017.10:g.62022677A>G , CM000679.1:g.62022677A>G GRCh37
NC_000017.9:g.59376409A>G NCBI36
NG_011699.1:g.32602T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000435607.3:c.3720+43T>C MANE Select ENSP00000396320.1:n.3720+43T>C
ENST00000578147.5:c.3720+43T>C ENSP00000463963.1:n.3720+43T>C
NM_000334.4:c.3720+43T>C MANE Select NP_000325.4:n.3720+43T>C
XM_005257566.3:c.3720+43T>C XP_005257623.1:n.3720+43T>C
Search 100 bp 5'
Search 100 bp 3'