Canonical Allele Identifier: CA2014392114

Gene: C1R

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.7086245G= , CM000674.2:g.7086245G=	GRCh38
NG_062465.1:g.11363C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647956.2:c.1117+134C= MANE Select	ENSP00000497341.1:n.1117+134C=
ENST00000648162.1:n.1089+134C=
ENST00000649804.1:c.211+134C=	ENSP00000497938.1:n.211+134C=
ENST00000535233.6:c.1015+134C=	ENSP00000438636.3:n.1015+134C=
ENST00000536053.6:c.1159+134C=	ENSP00000444271.3:n.1159+134C=
ENST00000540394.5:n.2182+134C=
ENST00000542285.5:c.1117+134C=	ENSP00000438615.2:n.1117+134C=
ENST00000602298.2:n.1466+134C=
NM_001733.4:c.1117+134C=	NP_001724.3:n.1117+134C=
NM_001354346.1:c.1159+134C=	NP_001341275.1:n.1159+134C=
NM_001733.6:c.1117+134C=	NP_001724.4:n.1117+134C=
NM_001733.7:c.1117+134C= MANE Select	NP_001724.4:n.1117+134C=
NM_001354346.2:c.1159+134C=	NP_001341275.1:n.1159+134C=