Canonical Allele Identifier: CA2617391396

Gene: C1R

Linked Data

• gnomAD v4: 12-7086404-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.7086404C>A , CM000674.2:g.7086404C>A	GRCh38
NG_062465.1:g.11204G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647956.2:c.1092G>T MANE Select	ENSP00000497341.1:p.Trp364Cys
ENST00000648162.1:n.1064G>T
ENST00000649804.1:c.186G>T	ENSP00000497938.1:p.Trp62Cys
ENST00000535233.6:c.990G>T	ENSP00000438636.3:p.Trp330Cys
ENST00000536053.6:c.1134G>T	ENSP00000444271.3:p.Trp378Cys
ENST00000540394.5:n.2157G>T
ENST00000542285.5:c.1092G>T	ENSP00000438615.2:p.Trp364Cys
ENST00000602298.2:n.1441G>T
NM_001733.4:c.1092G>T	NP_001724.3:p.Trp364Cys
NM_001354346.1:c.1134G>T	NP_001341275.1:p.Trp378Cys
NM_001733.6:c.1092G>T	NP_001724.4:p.Trp364Cys
NM_001733.7:c.1092G>T MANE Select	NP_001724.4:p.Trp364Cys
NM_001354346.2:c.1134G>T	NP_001341275.1:p.Trp378Cys