Canonical Allele Identifier: CA6424207
Gene: C1R HGNC NCBI
C1RL HGNC NCBI
MyVariant.info:
GRCh38 chr12:g.7089608C>T
GRCh37 chr12:g.7242204C>T
Revel Score:
ENST00000542220 0.351
ENST00000536053 0.351
ENST00000535233 0.351
ENST00000290575 0.351
ENST00000542285 0.351
ENST00000540610 0.351
gnomAD v2:
12:7242204 C / T
gnomAD v3:
12:7089608 C / T
gnomAD v4:
chr12-7089608-C-T
Joint Max Group AF 0.3509254 (EAS)
Genomes Max Group AF 0.34650382 (EAS)
Exomes Max Group AF 0.34996933 (EAS)
ClinVar RCV:
RCV001645719
ClinVar Variation:
1243558
dbSNP:
1126605
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.7089608C>T , CM000674.2:g.7089608C>T GRCh38
NC_000012.11:g.7242204C>T , CM000674.1:g.7242204C>T GRCh37
NC_000012.10:g.7133345C>T NCBI36
NG_062465.1:g.8000G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000647956.2:c.550G>A (C1R) MANE Select ENSP00000497341.1:p.Glu184Lys
ENST00000648162.1:n.522G>A (C1R)
ENST00000535233.6:c.448G>A (C1R) ENSP00000438636.3:p.Glu150Lys
ENST00000536053.6:c.592G>A (C1R) ENSP00000444271.3:p.Glu198Lys
ENST00000539803.5:c.1017G>A (C1RL)
ENST00000540394.5:n.1309G>A (C1R)
ENST00000540610.5:c.235G>A (C1R) ENSP00000439223.1:p.Glu79Lys
ENST00000542285.5:c.550G>A (C1R) ENSP00000438615.2:p.Glu184Lys
ENST00000543362.5:c.*202G>A (C1R) ENSP00000446356.1:n.*202G>A
NM_001733.4:c.550G>A (C1R) NP_001724.3:p.Glu184Lys
NM_001354346.1:c.592G>A (C1R) NP_001341275.1:p.Glu198Lys
NM_001733.6:c.550G>A (C1R) NP_001724.4:p.Glu184Lys
NM_001733.7:c.550G>A (C1R) MANE Select NP_001724.4:p.Glu184Lys
NM_001354346.2:c.592G>A (C1R) NP_001341275.1:p.Glu198Lys
Search 100 bp 5'
Search 100 bp 3'