Canonical Allele Identifier: CA6424124

Gene: C1R

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.7088974C>T , CM000674.2:g.7088974C>T	GRCh38
NC_000012.11:g.7241570C>T , CM000674.1:g.7241570C>T	GRCh37
NC_000012.10:g.7132711C>T	NCBI36
NG_062465.1:g.8634G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001733.7:c.781G>A MANE Select	NP_001724.4:p.Gly261Arg
ENST00000647956.2:c.781G>A MANE Select	ENSP00000497341.1:p.Gly261Arg
NM_001354346.1:c.823G>A	NP_001341275.1:p.Gly275Arg
NM_001354346.2:c.823G>A	NP_001341275.1:p.Gly275Arg
NM_001733.4:c.781G>A	NP_001724.3:p.Gly261Arg
NM_001733.6:c.781G>A	NP_001724.4:p.Gly261Arg
ENST00000535233.6:c.679G>A	ENSP00000438636.3:p.Gly227Arg
ENST00000536053.6:c.823G>A	ENSP00000444271.3:p.Gly275Arg
ENST00000540394.5:n.1846G>A
ENST00000542285.5:c.781G>A	ENSP00000438615.2:p.Gly261Arg
ENST00000648162.1:n.753G>A