Canonical Allele Identifier: CA10657194
Gene:
MyVariant.info:
GRCh38 chr1:g.4608610G>A
GRCh37 chr1:g.4668670G>A
gnomAD v2:
1:4668670 G / A
gnomAD v3:
1:4608610 G / A
gnomAD v4:
chr1-4608610-G-A
Joint Max Group AF 0.31863851 (EAS)
Genomes Max Group AF 0.31863851 (EAS)
dbSNP:
3896439
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.4608610G>A , CM000663.2:g.4608610G>A GRCh38
NC_000001.10:g.4668670G>A , CM000663.1:g.4668670G>A GRCh37
NC_000001.9:g.4568530G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_001737775.1:n.489+567G>A
Search 100 bp 5'
Search 100 bp 3'