Canonical Allele Identifier: CA178119084
Gene: CA8 HGNC NCBI

Linked Data

dbSNP Id: rs956070153
gnomAD v2: 8-61105105-A-G
gnomAD v3: 8-60192546-A-G
gnomAD v4: 8-60192546-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.60192546A>G , CM000670.2:g.60192546A>G GRCh38
NC_000008.10:g.61105105A>G , CM000670.1:g.61105105A>G GRCh37
NC_000008.9:g.61267659A>G NCBI36
NG_023193.1:g.93850T>C
NG_023193.2:g.93850T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000317995.5:c.*36-2561T>C MANE Select ENSP00000314407.4:n.*36-2561T>C
ENST00000317995.4:c.*36-2561T>C ENSP00000314407.4:n.*36-2561T>C
NM_004056.4:c.*36-2561T>C NP_004047.3:n.*36-2561T>C
XM_011517586.1:c.*36-2561T>C XP_011515888.1:n.*36-2561T>C
NM_001321839.1:c.*36-2561T>C NP_001308768.1:n.*36-2561T>C
NM_004056.5:c.*36-2561T>C NP_004047.3:n.*36-2561T>C
NR_135821.1:n.1235-2561T>C
XM_017013818.1:c.*36-2561T>C XP_016869307.1:n.*36-2561T>C
NM_004056.6:c.*36-2561T>C MANE Select NP_004047.3:n.*36-2561T>C
NM_001321839.2:c.*36-2561T>C NP_001308768.1:n.*36-2561T>C
NR_135821.2:n.1212-2561T>C