Canonical Allele Identifier: CA8685183
Gene: CA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 1940166
ClinVar RCV Id: RCV002658256
dbSNP Id: rs189605211

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.60150110G>A , CM000679.2:g.60150110G>A GRCh38
NC_000017.10:g.58227471G>A , CM000679.1:g.58227471G>A GRCh37
NC_000017.9:g.55582253G>A NCBI36
NG_012050.1:g.5170G>A
NG_012050.2:g.5170G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000300900.9:c.58+18G>A MANE Select ENSP00000300900.3:n.58+18G>A
ENST00000300900.8:c.58+18G>A ENSP00000300900.3:n.58+18G>A
ENST00000585705.5:n.151+18G>A
ENST00000586876.1:c.58+18G>A ENSP00000467465.1:n.58+18G>A
ENST00000591725.1:c.-301+18G>A ENSP00000466964.1:n.-301+18G>A
NM_000717.3:c.58+18G>A NP_000708.1:n.58+18G>A
XM_005257639.1:c.58+18G>A XP_005257696.1:n.58+18G>A
NM_000717.4:c.58+18G>A NP_000708.1:n.58+18G>A
NR_137422.1:n.157+18G>A
XM_005257639.3:c.58+18G>A XP_005257696.1:n.58+18G>A
XR_001752604.2:n.151+18G>A
XR_001752605.2:n.151+18G>A
XR_001752606.2:n.151+18G>A
XR_001752607.2:n.151+18G>A
XR_001752608.2:n.151+18G>A
XR_001752609.2:n.151+18G>A
XR_001752610.2:n.151+18G>A
NM_000717.5:c.58+18G>A MANE Select NP_000708.1:n.58+18G>A
NR_137422.2:n.120+18G>A