Canonical Allele Identifier: CA292962591
Gene: SCN4A HGNC NCBI

Linked Data

dbSNP Id: rs533006849
gnomAD v2: 17-62024659-T-C
gnomAD v3: 17-63947299-T-C
gnomAD v4: 17-63947299-T-C
MyVariant Identifiers: chr17:g.62024659T>C (hg19) chr17:g.63947299T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63947299T>C , CM000679.2:g.63947299T>C GRCh38
NC_000017.10:g.62024659T>C , CM000679.1:g.62024659T>C GRCh37
NC_000017.9:g.59378391T>C NCBI36
NG_011699.1:g.30620A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000435607.3:c.3319-132A>G MANE Select ENSP00000396320.1:n.3319-132A>G
ENST00000578147.5:c.3319-132A>G ENSP00000463963.1:n.3319-132A>G
NM_000334.4:c.3319-132A>G MANE Select NP_000325.4:n.3319-132A>G
XM_005257566.3:c.3319-132A>G XP_005257623.1:n.3319-132A>G
Search 100 bp 5'
Search 100 bp 3'