Canonical Allele Identifier: CA180251441

Gene: CA1

Linked Data

• dbSNP Id: rs565843084
• gnomAD v2: 8-86268377-T-A
• gnomAD v3: 8-85356148-T-A
• gnomAD v4: 8-85356148-T-A
• MyVariant Identifiers: chr8:g.86268377T>A (hg19) ; chr8:g.85356148T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.85356148T>A , CM000670.2:g.85356148T>A	GRCh38
NC_000008.10:g.86268377T>A , CM000670.1:g.86268377T>A	GRCh37
NC_000008.9:g.86455629T>A	NCBI36
NG_016221.1:g.26966A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000523022.6:c.-24-14489A>T MANE Select	ENSP00000429798.1:n.-24-14489A>T
ENST00000517429.5:c.-24-14489A>T	ENSP00000430710.1:n.-24-14489A>T
ENST00000517590.5:c.-101-13323A>T	ENSP00000429843.1:n.-101-13323A>T
ENST00000518341.5:n.69-14489A>T
ENST00000519129.5:c.-356-4364A>T	ENSP00000429688.1:n.-356-4364A>T
ENST00000519991.5:c.-46-14489A>T	ENSP00000430543.1:n.-46-14489A>T
ENST00000520093.5:n.69-14489A>T
ENST00000520663.5:c.-123-13323A>T	ENSP00000430571.1:n.-123-13323A>T
ENST00000520990.5:n.69-13323A>T
ENST00000521846.5:c.-155-4364A>T	ENSP00000430471.1:n.-155-4364A>T
ENST00000522579.5:c.-99-6263A>T	ENSP00000427852.1:n.-99-6263A>T
ENST00000522662.5:c.-79-14340A>T	ENSP00000430372.1:n.-79-14340A>T
ENST00000522814.5:c.-105-14314A>T	ENSP00000430737.1:n.-105-14314A>T
ENST00000523022.5:c.-24-14489A>T	ENSP00000429798.1:n.-24-14489A>T
ENST00000523858.5:c.-153-4364A>T	ENSP00000430975.1:n.-153-4364A>T
ENST00000523953.5:c.-78-4364A>T	ENSP00000430656.1:n.-78-4364A>T
ENST00000524324.5:c.-24-14489A>T	ENSP00000428923.1:n.-24-14489A>T
ENST00000626824.1:c.-100-4364A>T	ENSP00000486171.1:n.-100-4364A>T
NM_001128829.3:c.-99-6263A>T	NP_001122301.1:n.-99-6263A>T
NM_001128830.3:c.-101-13323A>T	NP_001122302.1:n.-101-13323A>T
NM_001128831.3:c.-24-14489A>T	NP_001122303.1:n.-24-14489A>T
NM_001291967.1:c.-24-14489A>T	NP_001278896.1:n.-24-14489A>T
NM_001291968.1:c.-46-14489A>T	NP_001278897.1:n.-46-14489A>T
NM_001738.4:c.-78-4364A>T	NP_001729.1:n.-78-4364A>T
XM_011517584.1:c.-155-4364A>T	XP_011515886.1:n.-155-4364A>T
NM_001128829.4:c.-99-6263A>T	NP_001122301.1:n.-99-6263A>T
NM_001128830.4:c.-101-13323A>T	NP_001122302.1:n.-101-13323A>T
NM_001128831.4:c.-24-14489A>T MANE Select	NP_001122303.1:n.-24-14489A>T
NM_001291967.2:c.-24-14489A>T	NP_001278896.1:n.-24-14489A>T
NM_001291968.2:c.-46-14489A>T	NP_001278897.1:n.-46-14489A>T
NM_001738.5:c.-78-4364A>T	NP_001729.1:n.-78-4364A>T