Canonical Allele Identifier: CA2014392166
Gene: C1R HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.7086383G= , CM000674.2:g.7086383G= GRCh38
NG_062465.1:g.11225C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000647956.2:c.1113C= MANE Select ENSP00000497341.1:p.Cys371=
ENST00000648162.1:n.1085C=
ENST00000649804.1:c.207C= ENSP00000497938.1:p.Cys69=
ENST00000535233.6:c.1011C= ENSP00000438636.3:p.Cys337=
ENST00000536053.6:c.1155C= ENSP00000444271.3:p.Cys385=
ENST00000540394.5:n.2178C=
ENST00000542285.5:c.1113C= ENSP00000438615.2:p.Cys371=
ENST00000602298.2:n.1462C=
NM_001733.4:c.1113C= NP_001724.3:p.Cys371=
NM_001354346.1:c.1155C= NP_001341275.1:p.Cys385=
NM_001733.6:c.1113C= NP_001724.4:p.Cys371=
NM_001733.7:c.1113C= MANE Select NP_001724.4:p.Cys371=
NM_001354346.2:c.1155C= NP_001341275.1:p.Cys385=