Canonical Allele Identifier: CA16044362

Gene: C1R

Linked Data

• ClinVar Variation Id: 375578
• ClinVar RCV Id: RCV000417066 ; RCV000755117
• dbSNP Id: rs1057519577
• MyVariant Identifiers: chr12:g.7241232A>G (hg19) ; chr12:g.7088636A>G (hg38)
• PubMed: PMID:27745832

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.7088636A>G , CM000674.2:g.7088636A>G	GRCh38
NC_000012.11:g.7241232A>G , CM000674.1:g.7241232A>G	GRCh37
NC_000012.10:g.7132373A>G	NCBI36
NG_062465.1:g.8972T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647956.2:c.1012T>C MANE Select	ENSP00000497341.1:p.Cys338Arg
ENST00000648162.1:n.984T>C
ENST00000649804.1:c.106T>C	ENSP00000497938.1:p.Cys36Arg
ENST00000535233.6:c.910T>C	ENSP00000438636.3:p.Cys304Arg
ENST00000536053.6:c.1054T>C	ENSP00000444271.3:p.Cys352Arg
ENST00000540394.5:n.2077T>C
ENST00000542285.5:c.1012T>C	ENSP00000438615.2:p.Cys338Arg
NM_001733.4:c.1012T>C	NP_001724.3:p.Cys338Arg
NM_001354346.1:c.1054T>C	NP_001341275.1:p.Cys352Arg
NM_001733.6:c.1012T>C	NP_001724.4:p.Cys338Arg
NM_001733.7:c.1012T>C MANE Select	NP_001724.4:p.Cys338Arg
NM_001354346.2:c.1054T>C	NP_001341275.1:p.Cys352Arg