Canonical Allele Identifier: CA15609427
Gene:
MyVariant.info:
GRCh38 chr9:g.2194227C>T
GRCh37 chr9:g.2194227C>T
gnomAD v2:
9:2194227 C / T
gnomAD v3:
9:2194227 C / T
gnomAD v4:
chr9-2194227-C-T
Joint Max Group AF 0.83094233 (AFR)
Genomes Max Group AF 0.83094233 (AFR)
dbSNP:
4741652
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.2194227C>T , CM000671.2:g.2194227C>T GRCh38
NC_000009.11:g.2194227C>T , CM000671.1:g.2194227C>T GRCh37
NC_000009.10:g.2184227C>T NCBI36
NG_032162.1:g.183886C>T
NG_032162.2:g.218938C>T

Transcript Alleles

HGVS Amino-acid Change
XR_001746600.1:n.1362-13205G>A
XR_001746601.1:n.1316-13205G>A
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