Canonical Allele Identifier: CA383723682

Gene: C1R

Linked Data

• gnomAD v4: 12-7088857-G-T
• MyVariant Identifiers: chr12:g.7241453G>T (hg19) ; chr12:g.7088857G>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000647956.2:c.898C>A MANE Select	ENSP00000497341.1:p.Leu300Met
ENST00000648162.1:n.870C>A
ENST00000535233.6:c.796C>A	ENSP00000438636.3:p.Leu266Met
ENST00000536053.6:c.940C>A	ENSP00000444271.3:p.Leu314Met
ENST00000540394.5:n.1963C>A
ENST00000542285.5:c.898C>A	ENSP00000438615.2:p.Leu300Met
NM_001733.4:c.898C>A	NP_001724.3:p.Leu300Met
NM_001354346.1:c.940C>A	NP_001341275.1:p.Leu314Met
NM_001733.6:c.898C>A	NP_001724.4:p.Leu300Met
NM_001733.7:c.898C>A MANE Select	NP_001724.4:p.Leu300Met
NM_001354346.2:c.940C>A	NP_001341275.1:p.Leu314Met