Canonical Allele Identifier: CA2014392201

Gene: C1R

Linked Data

• dbSNP Id: rs1938158010
• gnomAD v4: 12-7086452-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.7086452G>A , CM000674.2:g.7086452G>A	GRCh38
NG_062465.1:g.11156C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647956.2:c.1044C>T MANE Select	ENSP00000497341.1:p.Asn348=
ENST00000648162.1:n.1016C>T
ENST00000649804.1:c.138C>T	ENSP00000497938.1:p.Asn46=
ENST00000535233.6:c.942C>T	ENSP00000438636.3:p.Asn314=
ENST00000536053.6:c.1086C>T	ENSP00000444271.3:p.Asn362=
ENST00000540394.5:n.2109C>T
ENST00000542285.5:c.1044C>T	ENSP00000438615.2:p.Asn348=
ENST00000602298.2:n.1393C>T
NM_001733.4:c.1044C>T	NP_001724.3:p.Asn348=
NM_001354346.1:c.1086C>T	NP_001341275.1:p.Asn362=
NM_001733.6:c.1044C>T	NP_001724.4:p.Asn348=
NM_001733.7:c.1044C>T MANE Select	NP_001724.4:p.Asn348=
NM_001354346.2:c.1086C>T	NP_001341275.1:p.Asn362=