Canonical Allele Identifier: CA16040617
Gene: C1R HGNC NCBI

Linked Data

ClinVar Variation Id: 267354
ClinVar RCV Id: RCV000258067 RCV000755112
dbSNP Id: rs1057515579
MyVariant Identifiers: chr12:g.7241452A>G (hg19) chr12:g.7088856A>G (hg38)
PubMed: PMID:22739343 PMID:27745832
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.7088856A>G , CM000674.2:g.7088856A>G GRCh38
NC_000012.11:g.7241452A>G , CM000674.1:g.7241452A>G GRCh37
NC_000012.10:g.7132593A>G NCBI36
NG_062465.1:g.8752T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000647956.2:c.899T>C MANE Select ENSP00000497341.1:p.Leu300Pro
ENST00000648162.1:n.871T>C
ENST00000535233.6:c.797T>C ENSP00000438636.3:p.Leu266Pro
ENST00000536053.6:c.941T>C ENSP00000444271.3:p.Leu314Pro
ENST00000540394.5:n.1964T>C
ENST00000542285.5:c.899T>C ENSP00000438615.2:p.Leu300Pro
NM_001733.4:c.899T>C NP_001724.3:p.Leu300Pro
NM_001354346.1:c.941T>C NP_001341275.1:p.Leu314Pro
NM_001733.6:c.899T>C NP_001724.4:p.Leu300Pro
NM_001733.7:c.899T>C MANE Select NP_001724.4:p.Leu300Pro
NM_001354346.2:c.941T>C NP_001341275.1:p.Leu314Pro
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