Canonical Allele Identifier: CA180230021

Gene: CA1

Linked Data

• dbSNP Id: rs7827474
• gnomAD v2: 8-86241688-G-C
• gnomAD v3: 8-85329459-G-C
• gnomAD v4: 8-85329459-G-C
• MyVariant Identifiers: chr8:g.86241688G>C (hg19) ; chr8:g.85329459G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.85329459G>C , CM000670.2:g.85329459G>C	GRCh38
NC_000008.10:g.86241688G>C , CM000670.1:g.86241688G>C	GRCh37
NC_000008.9:g.86428940G>C	NCBI36
NG_016221.1:g.53655C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000523022.6:c.669+230C>G MANE Select	ENSP00000429798.1:n.669+230C>G
ENST00000431316.3:c.669+230C>G	ENSP00000392338.1:n.669+230C>G
ENST00000517618.5:c.669+230C>G	ENSP00000430861.1:n.669+230C>G
ENST00000519991.5:c.330+230C>G	ENSP00000430543.1:n.330+230C>G
ENST00000521679.5:c.478+230C>G
ENST00000522389.5:c.267+230C>G	ENSP00000427773.1:n.267+230C>G
ENST00000523022.5:c.669+230C>G	ENSP00000429798.1:n.669+230C>G
ENST00000523953.5:c.669+230C>G	ENSP00000430656.1:n.669+230C>G
ENST00000524324.5:c.471+230C>G	ENSP00000428923.1:n.471+230C>G
ENST00000542576.5:c.669+230C>G	ENSP00000443517.1:n.669+230C>G
ENST00000626824.1:c.267+230C>G	ENSP00000486171.1:n.267+230C>G
NM_001128829.3:c.669+230C>G	NP_001122301.1:n.669+230C>G
NM_001128830.3:c.669+230C>G	NP_001122302.1:n.669+230C>G
NM_001128831.3:c.669+230C>G	NP_001122303.1:n.669+230C>G
NM_001164830.1:c.669+230C>G	NP_001158302.1:n.669+230C>G
NM_001291967.1:c.471+230C>G	NP_001278896.1:n.471+230C>G
NM_001291968.1:c.330+230C>G	NP_001278897.1:n.330+230C>G
NM_001738.4:c.669+230C>G	NP_001729.1:n.669+230C>G
XM_011517584.1:c.669+230C>G	XP_011515886.1:n.669+230C>G
NM_001128829.4:c.669+230C>G	NP_001122301.1:n.669+230C>G
NM_001128830.4:c.669+230C>G	NP_001122302.1:n.669+230C>G
NM_001128831.4:c.669+230C>G MANE Select	NP_001122303.1:n.669+230C>G
NM_001164830.2:c.669+230C>G	NP_001158302.1:n.669+230C>G
NM_001291967.2:c.471+230C>G	NP_001278896.1:n.471+230C>G
NM_001291968.2:c.330+230C>G	NP_001278897.1:n.330+230C>G
NM_001738.5:c.669+230C>G	NP_001729.1:n.669+230C>G