Canonical Allele Identifier: CA2014392190

Gene: C1R

Linked Data

• dbSNP Id: rs1938157484

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.7086427C>G , CM000674.2:g.7086427C>G	GRCh38
NG_062465.1:g.11181G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647956.2:c.1069G>C MANE Select	ENSP00000497341.1:p.Val357Leu
ENST00000648162.1:n.1041G>C
ENST00000649804.1:c.163G>C	ENSP00000497938.1:p.Val55Leu
ENST00000535233.6:c.967G>C	ENSP00000438636.3:p.Val323Leu
ENST00000536053.6:c.1111G>C	ENSP00000444271.3:p.Val371Leu
ENST00000540394.5:n.2134G>C
ENST00000542285.5:c.1069G>C	ENSP00000438615.2:p.Val357Leu
ENST00000602298.2:n.1418G>C
NM_001733.4:c.1069G>C	NP_001724.3:p.Val357Leu
NM_001354346.1:c.1111G>C	NP_001341275.1:p.Val371Leu
NM_001733.6:c.1069G>C	NP_001724.4:p.Val357Leu
NM_001733.7:c.1069G>C MANE Select	NP_001724.4:p.Val357Leu
NM_001354346.2:c.1111G>C	NP_001341275.1:p.Val371Leu