Canonical Allele Identifier: CA2014392179
Gene: C1R HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.7086404C= , CM000674.2:g.7086404C= GRCh38
NG_062465.1:g.11204G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000647956.2:c.1092G= MANE Select ENSP00000497341.1:p.Trp364=
ENST00000648162.1:n.1064G=
ENST00000649804.1:c.186G= ENSP00000497938.1:p.Trp62=
ENST00000535233.6:c.990G= ENSP00000438636.3:p.Trp330=
ENST00000536053.6:c.1134G= ENSP00000444271.3:p.Trp378=
ENST00000540394.5:n.2157G=
ENST00000542285.5:c.1092G= ENSP00000438615.2:p.Trp364=
ENST00000602298.2:n.1441G=
NM_001733.4:c.1092G= NP_001724.3:p.Trp364=
NM_001354346.1:c.1134G= NP_001341275.1:p.Trp378=
NM_001733.6:c.1092G= NP_001724.4:p.Trp364=
NM_001733.7:c.1092G= MANE Select NP_001724.4:p.Trp364=
NM_001354346.2:c.1134G= NP_001341275.1:p.Trp378=