Canonical Allele Identifier: CA4795847

Gene: CA1

Linked Data

• dbSNP Id: rs760702002
• ExAC: 8:86240819 C / G
• gnomAD v2: 8-86240819-C-G
• gnomAD v4: 8-85328590-C-G
• MyVariant Identifiers: chr8:g.86240819C>G (hg19) ; chr8:g.85328590C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.85328590C>G , CM000670.2:g.85328590C>G	GRCh38
NC_000008.10:g.86240819C>G , CM000670.1:g.86240819C>G	GRCh37
NC_000008.9:g.86428071C>G	NCBI36
NG_016221.1:g.54524G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000523022.6:c.756G>C MANE Select	ENSP00000429798.1:p.Leu252=
ENST00000431316.3:c.756G>C	ENSP00000392338.1:p.Leu252=
ENST00000521679.5:c.505G>C
ENST00000522389.5:c.354G>C	ENSP00000427773.1:p.Leu118=
ENST00000523022.5:c.756G>C	ENSP00000429798.1:p.Leu252=
ENST00000523953.5:c.756G>C	ENSP00000430656.1:p.Leu252=
ENST00000524324.5:c.558G>C	ENSP00000428923.1:p.Leu186=
ENST00000542576.5:c.756G>C	ENSP00000443517.1:p.Leu252=
ENST00000626824.1:c.354G>C	ENSP00000486171.1:p.Leu118=
NM_001128829.3:c.756G>C	NP_001122301.1:p.Leu252=
NM_001128830.3:c.756G>C	NP_001122302.1:p.Leu252=
NM_001128831.3:c.756G>C	NP_001122303.1:p.Leu252=
NM_001164830.1:c.756G>C	NP_001158302.1:p.Leu252=
NM_001291967.1:c.558G>C	NP_001278896.1:p.Leu186=
NM_001291968.1:c.417G>C	NP_001278897.1:p.Leu139=
NM_001738.4:c.756G>C	NP_001729.1:p.Leu252=
XM_011517584.1:c.756G>C	XP_011515886.1:p.Leu252=
NM_001128829.4:c.756G>C	NP_001122301.1:p.Leu252=
NM_001128830.4:c.756G>C	NP_001122302.1:p.Leu252=
NM_001128831.4:c.756G>C MANE Select	NP_001122303.1:p.Leu252=
NM_001164830.2:c.756G>C	NP_001158302.1:p.Leu252=
NM_001291967.2:c.558G>C	NP_001278896.1:p.Leu186=
NM_001291968.2:c.417G>C	NP_001278897.1:p.Leu139=
NM_001738.5:c.756G>C	NP_001729.1:p.Leu252=