Canonical Allele Identifier: CA10822260
Gene:
MyVariant.info:
GRCh38 chr1:g.204602943G>A
GRCh37 chr1:g.204572071G>A
gnomAD v2:
1:204572071 G / A
gnomAD v3:
1:204602943 G / A
gnomAD v4:
chr1-204602943-G-A
Joint Max Group AF 0.47231451 (AMR)
Genomes Max Group AF 0.47231451 (AMR)
Exomes Max Group AF 0.34880639 (NFE)
dbSNP:
12143943
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.204602943G>A , CM000663.2:g.204602943G>A GRCh38
NC_000001.10:g.204572071G>A , CM000663.1:g.204572071G>A GRCh37
NC_000001.9:g.202838694G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_922449.1:n.706G>A
XR_922450.1:n.309G>A
XR_922451.1:n.244G>A
XR_922452.1:n.451G>A
XR_922453.1:n.238+5831G>A
XR_001738393.1:n.4586-12244G>A
XR_001738394.2:n.8093-12244G>A
XR_001738395.1:n.4029-12244G>A
XR_001738396.1:n.710G>A
XR_001738397.1:n.706G>A
XR_001738398.1:n.1694G>A
XR_001738399.1:n.249G>A
XR_001738400.1:n.314G>A
XR_001738401.1:n.710G>A
XR_001738402.1:n.710G>A
XR_001738403.1:n.710G>A
XR_001738404.1:n.710G>A
XR_001738405.1:n.710G>A
XR_001738406.1:n.710G>A
XR_001738407.1:n.2433-12244G>A
XR_001738408.1:n.244-5108G>A
XR_001738409.1:n.244-5103G>A
XR_001738410.1:n.710G>A
XR_001738411.1:n.243+5831G>A
XR_922453.2:n.243+5831G>A
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