Canonical Allele Identifier: CA2014392176

Gene: C1R

Linked Data

• dbSNP Id: rs890505142

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.7086399C>A , CM000674.2:g.7086399C>A	GRCh38
NG_062465.1:g.11209G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647956.2:c.1097G>T MANE Select	ENSP00000497341.1:p.Arg366Leu
ENST00000648162.1:n.1069G>T
ENST00000649804.1:c.191G>T	ENSP00000497938.1:p.Arg64Leu
ENST00000535233.6:c.995G>T	ENSP00000438636.3:p.Arg332Leu
ENST00000536053.6:c.1139G>T	ENSP00000444271.3:p.Arg380Leu
ENST00000540394.5:n.2162G>T
ENST00000542285.5:c.1097G>T	ENSP00000438615.2:p.Arg366Leu
ENST00000602298.2:n.1446G>T
NM_001733.4:c.1097G>T	NP_001724.3:p.Arg366Leu
NM_001354346.1:c.1139G>T	NP_001341275.1:p.Arg380Leu
NM_001733.6:c.1097G>T	NP_001724.4:p.Arg366Leu
NM_001733.7:c.1097G>T MANE Select	NP_001724.4:p.Arg366Leu
NM_001354346.2:c.1139G>T	NP_001341275.1:p.Arg380Leu