Canonical Allele Identifier: CA2014392196

Gene: C1R

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.7086448C= , CM000674.2:g.7086448C=	GRCh38
NG_062465.1:g.11160G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647956.2:c.1048G= MANE Select	ENSP00000497341.1:p.Val350=
ENST00000648162.1:n.1020G=
ENST00000649804.1:c.142G=	ENSP00000497938.1:p.Val48=
ENST00000535233.6:c.946G=	ENSP00000438636.3:p.Val316=
ENST00000536053.6:c.1090G=	ENSP00000444271.3:p.Val364=
ENST00000540394.5:n.2113G=
ENST00000542285.5:c.1048G=	ENSP00000438615.2:p.Val350=
ENST00000602298.2:n.1397G=
NM_001733.4:c.1048G=	NP_001724.3:p.Val350=
NM_001354346.1:c.1090G=	NP_001341275.1:p.Val364=
NM_001733.6:c.1048G=	NP_001724.4:p.Val350=
NM_001733.7:c.1048G= MANE Select	NP_001724.4:p.Val350=
NM_001354346.2:c.1090G=	NP_001341275.1:p.Val364=