Canonical Allele Identifier: CA16044360

Gene: C1R

Linked Data

• ClinVar Variation Id: 375580
• ClinVar RCV Id: RCV000417063 ; RCV000755120
• dbSNP Id: rs1057519579
• MyVariant Identifiers: chr12:g.7086383G>C (hg38)
• PubMed: PMID:27745832

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.7086383G>C , CM000674.2:g.7086383G>C	GRCh38
NG_062465.1:g.11225C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647956.2:c.1113C>G MANE Select	ENSP00000497341.1:p.Cys371Trp
ENST00000648162.1:n.1085C>G
ENST00000649804.1:c.207C>G	ENSP00000497938.1:p.Cys69Trp
ENST00000535233.6:c.1011C>G	ENSP00000438636.3:p.Cys337Trp
ENST00000536053.6:c.1155C>G	ENSP00000444271.3:p.Cys385Trp
ENST00000540394.5:n.2178C>G
ENST00000542285.5:c.1113C>G	ENSP00000438615.2:p.Cys371Trp
ENST00000602298.2:n.1462C>G
NM_001733.4:c.1113C>G	NP_001724.3:p.Cys371Trp
NM_001354346.1:c.1155C>G	NP_001341275.1:p.Cys385Trp
NM_001733.6:c.1113C>G	NP_001724.4:p.Cys371Trp
NM_001733.7:c.1113C>G MANE Select	NP_001724.4:p.Cys371Trp
NM_001354346.2:c.1155C>G	NP_001341275.1:p.Cys385Trp