Canonical Allele Identifier: CA400447890
Gene: CA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 2095265
ClinVar RCV Id: RCV003013751
dbSNP Id: rs1402202023

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.60150092G>T , CM000679.2:g.60150092G>T GRCh38
NC_000017.10:g.58227453G>T , CM000679.1:g.58227453G>T GRCh37
NC_000017.9:g.55582235G>T NCBI36
NG_012050.1:g.5152G>T
NG_012050.2:g.5152G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000300900.9:c.58G>T MANE Select ENSP00000300900.3:p.Glu20Ter
ENST00000300900.8:c.58G>T ENSP00000300900.3:p.Glu20Ter
ENST00000585705.5:n.151G>T
ENST00000586876.1:c.58G>T ENSP00000467465.1:p.Glu20Ter
ENST00000591725.1:c.-301G>T ENSP00000466964.1:n.-301G>T
NM_000717.3:c.58G>T NP_000708.1:p.Glu20Ter
XM_005257639.1:c.58G>T XP_005257696.1:p.Glu20Ter
NM_000717.4:c.58G>T NP_000708.1:p.Glu20Ter
NR_137422.1:n.157G>T
XM_005257639.3:c.58G>T XP_005257696.1:p.Glu20Ter
XR_001752604.2:n.151G>T
XR_001752605.2:n.151G>T
XR_001752606.2:n.151G>T
XR_001752607.2:n.151G>T
XR_001752608.2:n.151G>T
XR_001752609.2:n.151G>T
XR_001752610.2:n.151G>T
NM_000717.5:c.58G>T MANE Select NP_000708.1:p.Glu20Ter
NR_137422.2:n.120G>T