Canonical Allele Identifier: CA2617391414

Gene: C1R

Linked Data

• gnomAD v4: 12-7086426-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.7086426A>G , CM000674.2:g.7086426A>G	GRCh38
NG_062465.1:g.11182T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647956.2:c.1070T>C MANE Select	ENSP00000497341.1:p.Val357Ala
ENST00000648162.1:n.1042T>C
ENST00000649804.1:c.164T>C	ENSP00000497938.1:p.Val55Ala
ENST00000535233.6:c.968T>C	ENSP00000438636.3:p.Val323Ala
ENST00000536053.6:c.1112T>C	ENSP00000444271.3:p.Val371Ala
ENST00000540394.5:n.2135T>C
ENST00000542285.5:c.1070T>C	ENSP00000438615.2:p.Val357Ala
ENST00000602298.2:n.1419T>C
NM_001733.4:c.1070T>C	NP_001724.3:p.Val357Ala
NM_001354346.1:c.1112T>C	NP_001341275.1:p.Val371Ala
NM_001733.6:c.1070T>C	NP_001724.4:p.Val357Ala
NM_001733.7:c.1070T>C MANE Select	NP_001724.4:p.Val357Ala
NM_001354346.2:c.1112T>C	NP_001341275.1:p.Val371Ala