Canonical Allele Identifier: CA2617391429

Gene: C1R

Linked Data

• gnomAD v4: 12-7086444-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.7086444A>G , CM000674.2:g.7086444A>G	GRCh38
NG_062465.1:g.11164T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647956.2:c.1052T>C MANE Select	ENSP00000497341.1:p.Leu351Pro
ENST00000648162.1:n.1024T>C
ENST00000649804.1:c.146T>C	ENSP00000497938.1:p.Leu49Pro
ENST00000535233.6:c.950T>C	ENSP00000438636.3:p.Leu317Pro
ENST00000536053.6:c.1094T>C	ENSP00000444271.3:p.Leu365Pro
ENST00000540394.5:n.2117T>C
ENST00000542285.5:c.1052T>C	ENSP00000438615.2:p.Leu351Pro
ENST00000602298.2:n.1401T>C
NM_001733.4:c.1052T>C	NP_001724.3:p.Leu351Pro
NM_001354346.1:c.1094T>C	NP_001341275.1:p.Leu365Pro
NM_001733.6:c.1052T>C	NP_001724.4:p.Leu351Pro
NM_001733.7:c.1052T>C MANE Select	NP_001724.4:p.Leu351Pro
NM_001354346.2:c.1094T>C	NP_001341275.1:p.Leu365Pro