Canonical Allele Identifier: CA2014392198
Gene: C1R HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.7086449C= , CM000674.2:g.7086449C= GRCh38
NG_062465.1:g.11159G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000647956.2:c.1047G= MANE Select ENSP00000497341.1:p.Gln349=
ENST00000648162.1:n.1019G=
ENST00000649804.1:c.141G= ENSP00000497938.1:p.Gln47=
ENST00000535233.6:c.945G= ENSP00000438636.3:p.Gln315=
ENST00000536053.6:c.1089G= ENSP00000444271.3:p.Gln363=
ENST00000540394.5:n.2112G=
ENST00000542285.5:c.1047G= ENSP00000438615.2:p.Gln349=
ENST00000602298.2:n.1396G=
NM_001733.4:c.1047G= NP_001724.3:p.Gln349=
NM_001354346.1:c.1089G= NP_001341275.1:p.Gln363=
NM_001733.6:c.1047G= NP_001724.4:p.Gln349=
NM_001733.7:c.1047G= MANE Select NP_001724.4:p.Gln349=
NM_001354346.2:c.1089G= NP_001341275.1:p.Gln363=