Canonical Allele Identifier: CA2014392189
Gene: C1R HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.7086427C= , CM000674.2:g.7086427C= GRCh38
NG_062465.1:g.11181G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000647956.2:c.1069G= MANE Select ENSP00000497341.1:p.Val357=
ENST00000648162.1:n.1041G=
ENST00000649804.1:c.163G= ENSP00000497938.1:p.Val55=
ENST00000535233.6:c.967G= ENSP00000438636.3:p.Val323=
ENST00000536053.6:c.1111G= ENSP00000444271.3:p.Val371=
ENST00000540394.5:n.2134G=
ENST00000542285.5:c.1069G= ENSP00000438615.2:p.Val357=
ENST00000602298.2:n.1418G=
NM_001733.4:c.1069G= NP_001724.3:p.Val357=
NM_001354346.1:c.1111G= NP_001341275.1:p.Val371=
NM_001733.6:c.1069G= NP_001724.4:p.Val357=
NM_001733.7:c.1069G= MANE Select NP_001724.4:p.Val357=
NM_001354346.2:c.1111G= NP_001341275.1:p.Val371=