Canonical Allele Identifier: CA8685177
Gene: CA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 2803344
ClinVar RCV Id: RCV003679469
dbSNP Id: rs761188097

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.60150051C>T , CM000679.2:g.60150051C>T GRCh38
NC_000017.10:g.58227412C>T , CM000679.1:g.58227412C>T GRCh37
NC_000017.9:g.55582194C>T NCBI36
NG_012050.1:g.5111C>T
NG_012050.2:g.5111C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000300900.9:c.17C>T MANE Select ENSP00000300900.3:p.Ala6Val
ENST00000300900.8:c.17C>T ENSP00000300900.3:p.Ala6Val
ENST00000585705.5:n.110C>T
ENST00000586876.1:c.17C>T ENSP00000467465.1:p.Ala6Val
ENST00000591725.1:c.-342C>T ENSP00000466964.1:n.-342C>T
NM_000717.3:c.17C>T NP_000708.1:p.Ala6Val
XM_005257639.1:c.17C>T XP_005257696.1:p.Ala6Val
NM_000717.4:c.17C>T NP_000708.1:p.Ala6Val
NR_137422.1:n.116C>T
XM_005257639.3:c.17C>T XP_005257696.1:p.Ala6Val
XR_001752604.2:n.110C>T
XR_001752605.2:n.110C>T
XR_001752606.2:n.110C>T
XR_001752607.2:n.110C>T
XR_001752608.2:n.110C>T
XR_001752609.2:n.110C>T
XR_001752610.2:n.110C>T
NM_000717.5:c.17C>T MANE Select NP_000708.1:p.Ala6Val
NR_137422.2:n.79C>T