Canonical Allele Identifier: CA2617391365
Gene: C1R HGNC NCBI

Linked Data

gnomAD v4: 12-7086351-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.7086351A>G , CM000674.2:g.7086351A>G GRCh38
NG_062465.1:g.11257T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000647956.2:c.1117+28T>C MANE Select ENSP00000497341.1:n.1117+28T>C
ENST00000648162.1:n.1089+28T>C
ENST00000649804.1:c.211+28T>C ENSP00000497938.1:n.211+28T>C
ENST00000535233.6:c.1015+28T>C ENSP00000438636.3:n.1015+28T>C
ENST00000536053.6:c.1159+28T>C ENSP00000444271.3:n.1159+28T>C
ENST00000540394.5:n.2182+28T>C
ENST00000542285.5:c.1117+28T>C ENSP00000438615.2:n.1117+28T>C
ENST00000602298.2:n.1466+28T>C
NM_001733.4:c.1117+28T>C NP_001724.3:n.1117+28T>C
NM_001354346.1:c.1159+28T>C NP_001341275.1:n.1159+28T>C
NM_001733.6:c.1117+28T>C NP_001724.4:n.1117+28T>C
NM_001733.7:c.1117+28T>C MANE Select NP_001724.4:n.1117+28T>C
NM_001354346.2:c.1159+28T>C NP_001341275.1:n.1159+28T>C
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