Canonical Allele Identifier: CA2014392168
Gene: C1R HGNC NCBI

Linked Data

dbSNP Id: rs1938155961
gnomAD v4: 12-7086386-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.7086386T>C , CM000674.2:g.7086386T>C GRCh38
NG_062465.1:g.11222A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000647956.2:c.1110A>G MANE Select ENSP00000497341.1:p.Arg370=
ENST00000648162.1:n.1082A>G
ENST00000649804.1:c.204A>G ENSP00000497938.1:p.Arg68=
ENST00000535233.6:c.1008A>G ENSP00000438636.3:p.Arg336=
ENST00000536053.6:c.1152A>G ENSP00000444271.3:p.Arg384=
ENST00000540394.5:n.2175A>G
ENST00000542285.5:c.1110A>G ENSP00000438615.2:p.Arg370=
ENST00000602298.2:n.1459A>G
NM_001733.4:c.1110A>G NP_001724.3:p.Arg370=
NM_001354346.1:c.1152A>G NP_001341275.1:p.Arg384=
NM_001733.6:c.1110A>G NP_001724.4:p.Arg370=
NM_001733.7:c.1110A>G MANE Select NP_001724.4:p.Arg370=
NM_001354346.2:c.1152A>G NP_001341275.1:p.Arg384=