Canonical Allele Identifier: CA2617391420

Gene: C1R

Linked Data

• gnomAD v4: 12-7086436-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.7086436A>G , CM000674.2:g.7086436A>G	GRCh38
NG_062465.1:g.11172T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000647956.2:c.1060T>C MANE Select	ENSP00000497341.1:p.Phe354Leu
ENST00000648162.1:n.1032T>C
ENST00000649804.1:c.154T>C	ENSP00000497938.1:p.Phe52Leu
ENST00000535233.6:c.958T>C	ENSP00000438636.3:p.Phe320Leu
ENST00000536053.6:c.1102T>C	ENSP00000444271.3:p.Phe368Leu
ENST00000540394.5:n.2125T>C
ENST00000542285.5:c.1060T>C	ENSP00000438615.2:p.Phe354Leu
ENST00000602298.2:n.1409T>C
NM_001733.4:c.1060T>C	NP_001724.3:p.Phe354Leu
NM_001354346.1:c.1102T>C	NP_001341275.1:p.Phe368Leu
NM_001733.6:c.1060T>C	NP_001724.4:p.Phe354Leu
NM_001733.7:c.1060T>C MANE Select	NP_001724.4:p.Phe354Leu
NM_001354346.2:c.1102T>C	NP_001341275.1:p.Phe368Leu