Canonical Allele Identifier: CA5046599
Gene: CA9 HGNC NCBI
ARHGEF39 HGNC NCBI
COSMIC:
COSM4417806 (not active)
MyVariant.info:
GRCh38 chr9:g.35674104T>C
GRCh37 chr9:g.35674101T>C
gnomAD v2:
9:35674101 T / C
gnomAD v3:
9:35674104 T / C
gnomAD v4:
chr9-35674104-T-C
Joint Max Group AF 0.38058383 (AFR)
Genomes Max Group AF 0.37655823 (AFR)
Exomes Max Group AF 0.38214314 (AFR)
dbSNP:
12553173
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.35674104T>C , CM000671.2:g.35674104T>C GRCh38
NC_000009.11:g.35674101T>C , CM000671.1:g.35674101T>C GRCh37
NC_000009.10:g.35664101T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000378357.9:c.145T>C (CA9) MANE Select ENSP00000367608.4:p.Leu49=
ENST00000378357.8:c.145T>C (CA9) ENSP00000367608.4:p.Leu49=
ENST00000490638.5:c.-389A>G (ARHGEF39) ENSP00000436756.1:n.-389A>G
ENST00000617161.1:c.145T>C (CA9) ENSP00000482050.1:p.Leu49=
NM_001216.2:c.145T>C (CA9) NP_001207.2:p.Leu49=
XM_006716869.2:c.145T>C (CA9) XP_006716932.1:p.Leu49=
XM_006716870.2:c.145T>C (CA9) XP_006716933.1:p.Leu49=
XR_428428.2:n.169T>C (CA9)
XR_929358.1:n.48+1587A>G (ARHGEF39)
XR_929360.1:n.93+851A>G (ARHGEF39)
XR_001746374.2:n.296T>C (CA9)
XR_428428.3:n.244T>C (CA9)
NM_001216.3:c.145T>C (CA9) MANE Select NP_001207.2:p.Leu49=
Search 100 bp 5'
Search 100 bp 3'