Canonical Allele Identifier: CA944409678

Gene: C1R

Linked Data

• dbSNP Id: rs1938156078
• gnomAD v3: 12-7086389-G-A
• gnomAD v4: 12-7086389-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.7086389G>A , CM000674.2:g.7086389G>A	GRCh38
NG_062465.1:g.11219C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647956.2:c.1107C>T MANE Select	ENSP00000497341.1:p.Pro369=
ENST00000648162.1:n.1079C>T
ENST00000649804.1:c.201C>T	ENSP00000497938.1:p.Pro67=
ENST00000535233.6:c.1005C>T	ENSP00000438636.3:p.Pro335=
ENST00000536053.6:c.1149C>T	ENSP00000444271.3:p.Pro383=
ENST00000540394.5:n.2172C>T
ENST00000542285.5:c.1107C>T	ENSP00000438615.2:p.Pro369=
ENST00000602298.2:n.1456C>T
NM_001733.4:c.1107C>T	NP_001724.3:p.Pro369=
NM_001354346.1:c.1149C>T	NP_001341275.1:p.Pro383=
NM_001733.6:c.1107C>T	NP_001724.4:p.Pro369=
NM_001733.7:c.1107C>T MANE Select	NP_001724.4:p.Pro369=
NM_001354346.2:c.1149C>T	NP_001341275.1:p.Pro383=