Canonical Allele Identifier: CA1116115690

Gene: CA1

Linked Data

• dbSNP Id: rs1808255014
• gnomAD v3: 8-85328363-T-C
• gnomAD v4: 8-85328363-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.85328363T>C , CM000670.2:g.85328363T>C	GRCh38
NC_000008.10:g.86240592T>C , CM000670.1:g.86240592T>C	GRCh37
NC_000008.9:g.86427844T>C	NCBI36
NG_016221.1:g.54751A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000523022.6:c.*197A>G MANE Select	ENSP00000429798.1:n.*197A>G
ENST00000431316.3:c.*197A>G	ENSP00000392338.1:n.*197A>G
ENST00000523022.5:c.*197A>G	ENSP00000429798.1:n.*197A>G
ENST00000523953.5:c.*197A>G	ENSP00000430656.1:n.*197A>G
ENST00000542576.5:c.*197A>G	ENSP00000443517.1:n.*197A>G
ENST00000626824.1:c.*197A>G	ENSP00000486171.1:n.*197A>G
NM_001128829.3:c.*197A>G	NP_001122301.1:n.*197A>G
NM_001128830.3:c.*197A>G	NP_001122302.1:n.*197A>G
NM_001128831.3:c.*197A>G	NP_001122303.1:n.*197A>G
NM_001164830.1:c.*197A>G	NP_001158302.1:n.*197A>G
NM_001291967.1:c.*197A>G	NP_001278896.1:n.*197A>G
NM_001291968.1:c.*197A>G	NP_001278897.1:n.*197A>G
NM_001738.4:c.*197A>G	NP_001729.1:n.*197A>G
XM_011517584.1:c.*197A>G	XP_011515886.1:n.*197A>G
NM_001128829.4:c.*197A>G	NP_001122301.1:n.*197A>G
NM_001128830.4:c.*197A>G	NP_001122302.1:n.*197A>G
NM_001128831.4:c.*197A>G MANE Select	NP_001122303.1:n.*197A>G
NM_001164830.2:c.*197A>G	NP_001158302.1:n.*197A>G
NM_001291967.2:c.*197A>G	NP_001278896.1:n.*197A>G
NM_001291968.2:c.*197A>G	NP_001278897.1:n.*197A>G
NM_001738.5:c.*197A>G	NP_001729.1:n.*197A>G