Canonical Allele Identifier: CA691438997

Gene: C1R

Linked Data

• dbSNP Id: rs1205480141
• gnomAD v3: 12-7086456-C-G
• gnomAD v4: 12-7086456-C-G
• MyVariant Identifiers: chr12:g.7086456C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.7086456C>G , CM000674.2:g.7086456C>G	GRCh38
NG_062465.1:g.11152G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000647956.2:c.1040G>C MANE Select	ENSP00000497341.1:p.Gly347Ala
ENST00000648162.1:n.1012G>C
ENST00000649804.1:c.134G>C	ENSP00000497938.1:p.Gly45Ala
ENST00000535233.6:c.938G>C	ENSP00000438636.3:p.Gly313Ala
ENST00000536053.6:c.1082G>C	ENSP00000444271.3:p.Gly361Ala
ENST00000540394.5:n.2105G>C
ENST00000542285.5:c.1040G>C	ENSP00000438615.2:p.Gly347Ala
ENST00000602298.2:n.1389G>C
NM_001733.4:c.1040G>C	NP_001724.3:p.Gly347Ala
NM_001354346.1:c.1082G>C	NP_001341275.1:p.Gly361Ala
NM_001733.6:c.1040G>C	NP_001724.4:p.Gly347Ala
NM_001733.7:c.1040G>C MANE Select	NP_001724.4:p.Gly347Ala
NM_001354346.2:c.1082G>C	NP_001341275.1:p.Gly361Ala