Canonical Allele Identifier: CA2014392164
Gene: C1R HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.7086381T= , CM000674.2:g.7086381T= GRCh38
NG_062465.1:g.11227A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000647956.2:c.1115A= MANE Select ENSP00000497341.1:p.Lys372=
ENST00000648162.1:n.1087A=
ENST00000649804.1:c.209A= ENSP00000497938.1:p.Lys70=
ENST00000535233.6:c.1013A= ENSP00000438636.3:p.Lys338=
ENST00000536053.6:c.1157A= ENSP00000444271.3:p.Lys386=
ENST00000540394.5:n.2180A=
ENST00000542285.5:c.1115A= ENSP00000438615.2:p.Lys372=
ENST00000602298.2:n.1464A=
NM_001733.4:c.1115A= NP_001724.3:p.Lys372=
NM_001354346.1:c.1157A= NP_001341275.1:p.Lys386=
NM_001733.6:c.1115A= NP_001724.4:p.Lys372=
NM_001733.7:c.1115A= MANE Select NP_001724.4:p.Lys372=
NM_001354346.2:c.1157A= NP_001341275.1:p.Lys386=