Canonical Allele Identifier: CA13029108
Gene: CA9 HGNC NCBI
COSMIC:
COSN14916159 (not active)
MyVariant.info:
GRCh38 chr9:g.35681125C>A
GRCh37 chr9:g.35681122C>A
gnomAD v2:
9:35681122 C / A
gnomAD v3:
9:35681125 C / A
gnomAD v4:
chr9-35681125-C-A
Joint Max Group AF 0.28569021 (AMR)
Genomes Max Group AF 0.28244264 (SAS)
Exomes Max Group AF 0.32005384 (AMR)
dbSNP:
1048638
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.35681125C>A , CM000671.2:g.35681125C>A GRCh38
NC_000009.11:g.35681122C>A , CM000671.1:g.35681122C>A GRCh37
NC_000009.10:g.35671122C>A NCBI36
NG_011620.1:g.13933G>T , LRG_680:g.13933G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000378357.9:c.*100C>A MANE Select ENSP00000367608.4:n.*100C>A
ENST00000378357.8:c.*100C>A ENSP00000367608.4:n.*100C>A
ENST00000485665.1:n.295C>A
ENST00000493245.1:n.684C>A
ENST00000617161.1:c.*231C>A ENSP00000482050.1:n.*231C>A
NM_001216.2:c.*100C>A NP_001207.2:n.*100C>A
XR_428428.2:n.1437C>A
XR_001746374.2:n.1744C>A
XR_428428.3:n.1512C>A
NM_001216.3:c.*100C>A MANE Select NP_001207.2:n.*100C>A
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