Canonical Allele Identifier: CA2014392173

Gene: C1R

Linked Data

• dbSNP Id: rs1938156134
• gnomAD v4: 12-7086391-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.7086391G>T , CM000674.2:g.7086391G>T	GRCh38
NG_062465.1:g.11217C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647956.2:c.1105C>A MANE Select	ENSP00000497341.1:p.Pro369Thr
ENST00000648162.1:n.1077C>A
ENST00000649804.1:c.199C>A	ENSP00000497938.1:p.Pro67Thr
ENST00000535233.6:c.1003C>A	ENSP00000438636.3:p.Pro335Thr
ENST00000536053.6:c.1147C>A	ENSP00000444271.3:p.Pro383Thr
ENST00000540394.5:n.2170C>A
ENST00000542285.5:c.1105C>A	ENSP00000438615.2:p.Pro369Thr
ENST00000602298.2:n.1454C>A
NM_001733.4:c.1105C>A	NP_001724.3:p.Pro369Thr
NM_001354346.1:c.1147C>A	NP_001341275.1:p.Pro383Thr
NM_001733.6:c.1105C>A	NP_001724.4:p.Pro369Thr
NM_001733.7:c.1105C>A MANE Select	NP_001724.4:p.Pro369Thr
NM_001354346.2:c.1147C>A	NP_001341275.1:p.Pro383Thr