Canonical Allele Identifier: CA13032398
Gene:
COSMIC:
COSN14779183 (not active)
MyVariant.info:
GRCh38 chr9:g.82521000A>C
GRCh37 chr9:g.85135915A>C
gnomAD v2:
9:85135915 A / C
gnomAD v3:
9:82521000 A / C
gnomAD v4:
chr9-82521000-A-C
Joint Max Group AF 0.79146981 (AFR)
Genomes Max Group AF 0.79146981 (AFR)
dbSNP:
7043482
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.82521000A>C , CM000671.2:g.82521000A>C GRCh38
NC_000009.11:g.85135915A>C , CM000671.1:g.85135915A>C GRCh37
NC_000009.10:g.84325735A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000589973.2:n.247+24142A>C
ENST00000590298.5:n.440-43029A>C
ENST00000590791.5:n.526-3519A>C
ENST00000591257.5:n.347-3519A>C
ENST00000637606.1:n.985+24142A>C
XR_001746782.1:n.241+24142A>C
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