Canonical Allele Identifier: CA383723680

Gene: C1R

Linked Data

• MyVariant Identifiers: chr12:g.7241453G>C (hg19) ; chr12:g.7088857G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.7088857G>C , CM000674.2:g.7088857G>C	GRCh38
NC_000012.11:g.7241453G>C , CM000674.1:g.7241453G>C	GRCh37
NC_000012.10:g.7132594G>C	NCBI36
NG_062465.1:g.8751C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000647956.2:c.898C>G MANE Select	ENSP00000497341.1:p.Leu300Val
ENST00000648162.1:n.870C>G
ENST00000535233.6:c.796C>G	ENSP00000438636.3:p.Leu266Val
ENST00000536053.6:c.940C>G	ENSP00000444271.3:p.Leu314Val
ENST00000540394.5:n.1963C>G
ENST00000542285.5:c.898C>G	ENSP00000438615.2:p.Leu300Val
NM_001733.4:c.898C>G	NP_001724.3:p.Leu300Val
NM_001354346.1:c.940C>G	NP_001341275.1:p.Leu314Val
NM_001733.6:c.898C>G	NP_001724.4:p.Leu300Val
NM_001733.7:c.898C>G MANE Select	NP_001724.4:p.Leu300Val
NM_001354346.2:c.940C>G	NP_001341275.1:p.Leu314Val