Canonical Allele Identifier: CA2617391394

Gene: C1R

Linked Data

• gnomAD v4: 12-7086400-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.7086400G>T , CM000674.2:g.7086400G>T	GRCh38
NG_062465.1:g.11208C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647956.2:c.1096C>A MANE Select	ENSP00000497341.1:p.Arg366Ser
ENST00000648162.1:n.1068C>A
ENST00000649804.1:c.190C>A	ENSP00000497938.1:p.Arg64Ser
ENST00000535233.6:c.994C>A	ENSP00000438636.3:p.Arg332Ser
ENST00000536053.6:c.1138C>A	ENSP00000444271.3:p.Arg380Ser
ENST00000540394.5:n.2161C>A
ENST00000542285.5:c.1096C>A	ENSP00000438615.2:p.Arg366Ser
ENST00000602298.2:n.1445C>A
NM_001733.4:c.1096C>A	NP_001724.3:p.Arg366Ser
NM_001354346.1:c.1138C>A	NP_001341275.1:p.Arg380Ser
NM_001733.6:c.1096C>A	NP_001724.4:p.Arg366Ser
NM_001733.7:c.1096C>A MANE Select	NP_001724.4:p.Arg366Ser
NM_001354346.2:c.1138C>A	NP_001341275.1:p.Arg380Ser