Canonical Allele Identifier: CA10760615
Gene:
MyVariant.info:
GRCh38 chr1:g.817186G>A
GRCh37 chr1:g.752566G>A
gnomAD v2:
1:752566 G / A
gnomAD v3:
1:817186 G / A
gnomAD v4:
chr1-817186-G-A
Joint Max Group AF 0.86669446 (EAS)
Genomes Max Group AF 0.86669446 (EAS)
dbSNP:
3094315
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.817186G>A , CM000663.2:g.817186G>A GRCh38
NC_000001.10:g.752566G>A , CM000663.1:g.752566G>A GRCh37
NC_000001.9:g.742429G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000634337.2:n.127+10484C>T
ENST00000635509.2:n.100+10484C>T
ENST00000447500.4:n.340+187C>T
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