Canonical Allele Identifier: CA11440018
Gene:
MyVariant.info:
GRCh38 chr3:g.30605668A>G
GRCh37 chr3:g.30647160A>G
gnomAD v2:
3:30647160 A / G
gnomAD v3:
3:30605668 A / G
gnomAD v4:
chr3-30605668-A-G
Joint Max Group AF 0.7704662 (NFE)
Genomes Max Group AF 0.7704662 (NFE)
ClinVar RCV:
RCV001516275
ClinVar Variation:
1167240
dbSNP:
3087465
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.30605668A>G , CM000665.2:g.30605668A>G GRCh38
NC_000003.11:g.30647160A>G , CM000665.1:g.30647160A>G GRCh37
NC_000003.10:g.30622164A>G NCBI36
NG_007490.1:g.4167A>G , LRG_779:g.4167A>G

Transcript Alleles

HGVS Amino-acid Change
XR_940691.1:n.341-110T>C
XR_940691.3:n.233-110T>C
Search 100 bp 5'
Search 100 bp 3'