Canonical Allele Identifier: CA93117897
Gene:

Linked Data

dbSNP Id: rs527672202
gnomAD v3: 4-12578101-G-A
gnomAD v4: 4-12578101-G-A
MyVariant Identifiers: chr4:g.12579725G>A (hg19) chr4:g.12578101G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.12578101G>A , CM000666.2:g.12578101G>A GRCh38
NC_000004.11:g.12579725G>A , CM000666.1:g.12579725G>A GRCh37
NC_000004.10:g.12188823G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_925406.1:n.106+31241C>T
XR_001741374.1:n.254+44554C>T
XR_925406.3:n.140+31241C>T
Search 100 bp 5'
Search 100 bp 3'