Canonical Allele Identifier: CA16042208

Gene: C1R

Linked Data

• ClinVar Variation Id: 372129
• ClinVar RCV Id: RCV000412507 ; RCV000755111
• dbSNP Id: rs1057519026
• MyVariant Identifiers: chr12:g.7241461C>T (hg19) ; chr12:g.7088865C>T (hg38)
• PubMed: PMID:27745832

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.7088865C>T , CM000674.2:g.7088865C>T	GRCh38
NC_000012.11:g.7241461C>T , CM000674.1:g.7241461C>T	GRCh37
NC_000012.10:g.7132602C>T	NCBI36
NG_062465.1:g.8743G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647956.2:c.890G>A MANE Select	ENSP00000497341.1:p.Gly297Asp
ENST00000648162.1:n.862G>A
ENST00000535233.6:c.788G>A	ENSP00000438636.3:p.Gly263Asp
ENST00000536053.6:c.932G>A	ENSP00000444271.3:p.Gly311Asp
ENST00000540394.5:n.1955G>A
ENST00000542285.5:c.890G>A	ENSP00000438615.2:p.Gly297Asp
NM_001733.4:c.890G>A	NP_001724.3:p.Gly297Asp
NM_001354346.1:c.932G>A	NP_001341275.1:p.Gly311Asp
NM_001733.6:c.890G>A	NP_001724.4:p.Gly297Asp
NM_001733.7:c.890G>A MANE Select	NP_001724.4:p.Gly297Asp
NM_001354346.2:c.932G>A	NP_001341275.1:p.Gly311Asp