Canonical Allele Identifier: CA2014392185

Gene: C1R

Linked Data

• dbSNP Id: rs1938157268
• gnomAD v4: 12-7086419-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.7086419C>T , CM000674.2:g.7086419C>T	GRCh38
NG_062465.1:g.11189G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647956.2:c.1077G>A MANE Select	ENSP00000497341.1:p.Gln359=
ENST00000648162.1:n.1049G>A
ENST00000649804.1:c.171G>A	ENSP00000497938.1:p.Gln57=
ENST00000535233.6:c.975G>A	ENSP00000438636.3:p.Gln325=
ENST00000536053.6:c.1119G>A	ENSP00000444271.3:p.Gln373=
ENST00000540394.5:n.2142G>A
ENST00000542285.5:c.1077G>A	ENSP00000438615.2:p.Gln359=
ENST00000602298.2:n.1426G>A
NM_001733.4:c.1077G>A	NP_001724.3:p.Gln359=
NM_001354346.1:c.1119G>A	NP_001341275.1:p.Gln373=
NM_001733.6:c.1077G>A	NP_001724.4:p.Gln359=
NM_001733.7:c.1077G>A MANE Select	NP_001724.4:p.Gln359=
NM_001354346.2:c.1119G>A	NP_001341275.1:p.Gln373=