Canonical Allele Identifier: CA4795843

Gene: CA1

Linked Data

• dbSNP Id: rs773995640
• ExAC: 8:86240804 C / T
• gnomAD v2: 8-86240804-C-T
• gnomAD v3: 8-85328575-C-T
• gnomAD v4: 8-85328575-C-T
• MyVariant Identifiers: chr8:g.86240804C>T (hg19) ; chr8:g.85328575C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.85328575C>T , CM000670.2:g.85328575C>T	GRCh38
NC_000008.10:g.86240804C>T , CM000670.1:g.86240804C>T	GRCh37
NC_000008.9:g.86428056C>T	NCBI36
NG_016221.1:g.54539G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000523022.6:c.771G>A MANE Select	ENSP00000429798.1:p.Val257=
ENST00000431316.3:c.771G>A	ENSP00000392338.1:p.Val257=
ENST00000521679.5:c.520G>A
ENST00000522389.5:c.369G>A	ENSP00000427773.1:p.Val123=
ENST00000523022.5:c.771G>A	ENSP00000429798.1:p.Val257=
ENST00000523953.5:c.771G>A	ENSP00000430656.1:p.Val257=
ENST00000524324.5:c.573G>A	ENSP00000428923.1:p.Val191=
ENST00000542576.5:c.771G>A	ENSP00000443517.1:p.Val257=
ENST00000626824.1:c.369G>A	ENSP00000486171.1:p.Val123=
NM_001128829.3:c.771G>A	NP_001122301.1:p.Val257=
NM_001128830.3:c.771G>A	NP_001122302.1:p.Val257=
NM_001128831.3:c.771G>A	NP_001122303.1:p.Val257=
NM_001164830.1:c.771G>A	NP_001158302.1:p.Val257=
NM_001291967.1:c.573G>A	NP_001278896.1:p.Val191=
NM_001291968.1:c.432G>A	NP_001278897.1:p.Val144=
NM_001738.4:c.771G>A	NP_001729.1:p.Val257=
XM_011517584.1:c.771G>A	XP_011515886.1:p.Val257=
NM_001128829.4:c.771G>A	NP_001122301.1:p.Val257=
NM_001128830.4:c.771G>A	NP_001122302.1:p.Val257=
NM_001128831.4:c.771G>A MANE Select	NP_001122303.1:p.Val257=
NM_001164830.2:c.771G>A	NP_001158302.1:p.Val257=
NM_001291967.2:c.573G>A	NP_001278896.1:p.Val191=
NM_001291968.2:c.432G>A	NP_001278897.1:p.Val144=
NM_001738.5:c.771G>A	NP_001729.1:p.Val257=