Canonical Allele Identifier: CA2617391378

Gene: C1R

Linked Data

• gnomAD v4: 12-7086379-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.7086379T>C , CM000674.2:g.7086379T>C	GRCh38
NG_062465.1:g.11229A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000647956.2:c.1117A>G MANE Select	ENSP00000497341.1:p.Ile373Val
ENST00000648162.1:n.1089A>G
ENST00000649804.1:c.211A>G	ENSP00000497938.1:p.Arg71Gly
ENST00000535233.6:c.1015A>G	ENSP00000438636.3:p.Ile339Val
ENST00000536053.6:c.1159A>G	ENSP00000444271.3:p.Ile387Val
ENST00000540394.5:n.2182A>G
ENST00000542285.5:c.1117A>G	ENSP00000438615.2:p.Ile373Val
ENST00000602298.2:n.1466A>G
NM_001733.4:c.1117A>G	NP_001724.3:p.Ile373Val
NM_001354346.1:c.1159A>G	NP_001341275.1:p.Ile387Val
NM_001733.6:c.1117A>G	NP_001724.4:p.Ile373Val
NM_001733.7:c.1117A>G MANE Select	NP_001724.4:p.Ile373Val
NM_001354346.2:c.1159A>G	NP_001341275.1:p.Ile387Val