Canonical Allele Identifier: CA10602473
Gene: C1R HGNC NCBI

Linked Data

ClinVar Variation Id: 267351
dbSNP Id: rs1057518645
MyVariant Identifiers: chr12:g.7086423C>A (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.7086423C>A , CM000674.2:g.7086423C>A GRCh38
NG_062465.1:g.11185G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000647956.2:c.1073G>T MANE Select ENSP00000497341.1:p.Cys358Phe
ENST00000648162.1:n.1045G>T
ENST00000649804.1:c.167G>T ENSP00000497938.1:p.Cys56Phe
ENST00000535233.6:c.971G>T ENSP00000438636.3:p.Cys324Phe
ENST00000536053.6:c.1115G>T ENSP00000444271.3:p.Cys372Phe
ENST00000540394.5:n.2138G>T
ENST00000542285.5:c.1073G>T ENSP00000438615.2:p.Cys358Phe
ENST00000602298.2:n.1422G>T
NM_001733.4:c.1073G>T NP_001724.3:p.Cys358Phe
NM_001354346.1:c.1115G>T NP_001341275.1:p.Cys372Phe
NM_001733.6:c.1073G>T NP_001724.4:p.Cys358Phe
NM_001733.7:c.1073G>T MANE Select NP_001724.4:p.Cys358Phe
NM_001354346.2:c.1115G>T NP_001341275.1:p.Cys372Phe