Canonical Allele Identifier: CA944409682

Gene: C1R

Linked Data

• dbSNP Id: rs1938157546
• gnomAD v3: 12-7086429-G-A
• gnomAD v4: 12-7086429-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.7086429G>A , CM000674.2:g.7086429G>A	GRCh38
NG_062465.1:g.11179C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000647956.2:c.1067C>T MANE Select	ENSP00000497341.1:p.Ala356Val
ENST00000648162.1:n.1039C>T
ENST00000649804.1:c.161C>T	ENSP00000497938.1:p.Ala54Val
ENST00000535233.6:c.965C>T	ENSP00000438636.3:p.Ala322Val
ENST00000536053.6:c.1109C>T	ENSP00000444271.3:p.Ala370Val
ENST00000540394.5:n.2132C>T
ENST00000542285.5:c.1067C>T	ENSP00000438615.2:p.Ala356Val
ENST00000602298.2:n.1416C>T
NM_001733.4:c.1067C>T	NP_001724.3:p.Ala356Val
NM_001354346.1:c.1109C>T	NP_001341275.1:p.Ala370Val
NM_001733.6:c.1067C>T	NP_001724.4:p.Ala356Val
NM_001733.7:c.1067C>T MANE Select	NP_001724.4:p.Ala356Val
NM_001354346.2:c.1109C>T	NP_001341275.1:p.Ala370Val