Canonical Allele Identifier: CA180229403

Gene: CA1

Linked Data

• dbSNP Id: rs984662472
• gnomAD v2: 8-86240828-G-A
• gnomAD v4: 8-85328599-G-A
• MyVariant Identifiers: chr8:g.86240828G>A (hg19) ; chr8:g.85328599G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.85328599G>A , CM000670.2:g.85328599G>A	GRCh38
NC_000008.10:g.86240828G>A , CM000670.1:g.86240828G>A	GRCh37
NC_000008.9:g.86428080G>A	NCBI36
NG_016221.1:g.54515C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000523022.6:c.747C>T MANE Select	ENSP00000429798.1:p.Thr249=
ENST00000431316.3:c.747C>T	ENSP00000392338.1:p.Thr249=
ENST00000517618.5:c.747C>T	ENSP00000430861.1:p.Thr249=
ENST00000519991.5:c.408C>T	ENSP00000430543.1:p.Thr136=
ENST00000521679.5:c.496C>T
ENST00000522389.5:c.345C>T	ENSP00000427773.1:p.Thr115=
ENST00000523022.5:c.747C>T	ENSP00000429798.1:p.Thr249=
ENST00000523953.5:c.747C>T	ENSP00000430656.1:p.Thr249=
ENST00000524324.5:c.549C>T	ENSP00000428923.1:p.Thr183=
ENST00000542576.5:c.747C>T	ENSP00000443517.1:p.Thr249=
ENST00000626824.1:c.345C>T	ENSP00000486171.1:p.Thr115=
NM_001128829.3:c.747C>T	NP_001122301.1:p.Thr249=
NM_001128830.3:c.747C>T	NP_001122302.1:p.Thr249=
NM_001128831.3:c.747C>T	NP_001122303.1:p.Thr249=
NM_001164830.1:c.747C>T	NP_001158302.1:p.Thr249=
NM_001291967.1:c.549C>T	NP_001278896.1:p.Thr183=
NM_001291968.1:c.408C>T	NP_001278897.1:p.Thr136=
NM_001738.4:c.747C>T	NP_001729.1:p.Thr249=
XM_011517584.1:c.747C>T	XP_011515886.1:p.Thr249=
NM_001128829.4:c.747C>T	NP_001122301.1:p.Thr249=
NM_001128830.4:c.747C>T	NP_001122302.1:p.Thr249=
NM_001128831.4:c.747C>T MANE Select	NP_001122303.1:p.Thr249=
NM_001164830.2:c.747C>T	NP_001158302.1:p.Thr249=
NM_001291967.2:c.549C>T	NP_001278896.1:p.Thr183=
NM_001291968.2:c.408C>T	NP_001278897.1:p.Thr136=
NM_001738.5:c.747C>T	NP_001729.1:p.Thr249=