Canonical Allele Identifier: CA93117879
Gene:

Linked Data

dbSNP Id: rs766499094
gnomAD v3: 4-12577992-G-A
gnomAD v4: 4-12577992-G-A
MyVariant Identifiers: chr4:g.12579616G>A (hg19) chr4:g.12577992G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.12577992G>A , CM000666.2:g.12577992G>A GRCh38
NC_000004.11:g.12579616G>A , CM000666.1:g.12579616G>A GRCh37
NC_000004.10:g.12188714G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_925406.1:n.106+31350C>T
XR_001741374.1:n.254+44663C>T
XR_925406.3:n.140+31350C>T
Search 100 bp 5'
Search 100 bp 3'