Canonical Allele Identifier: CA944409685

Gene: C1R

Linked Data

• dbSNP Id: rs1938158484
• gnomAD v3: 12-7086483-AT-A
• gnomAD v4: 12-7086483-AT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.7086484del , CM000674.2:g.7086484del	GRCh38
NG_062465.1:g.11124del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647956.2:c.1039-27del MANE Select	ENSP00000497341.1:n.1039-27del
ENST00000648162.1:n.1011-27del
ENST00000649804.1:c.133-27del	ENSP00000497938.1:n.133-27del
ENST00000535233.6:c.937-27del	ENSP00000438636.3:n.937-27del
ENST00000536053.6:c.1081-27del	ENSP00000444271.3:n.1081-27del
ENST00000540394.5:n.2104-27del
ENST00000542285.5:c.1039-27del	ENSP00000438615.2:n.1039-27del
ENST00000602298.2:n.1361del
NM_001733.4:c.1039-27del	NP_001724.3:n.1039-27del
NM_001354346.1:c.1081-27del	NP_001341275.1:n.1081-27del
NM_001733.6:c.1039-27del	NP_001724.4:n.1039-27del
NM_001733.7:c.1039-27del MANE Select	NP_001724.4:n.1039-27del
NM_001354346.2:c.1081-27del	NP_001341275.1:n.1081-27del