Canonical Allele Identifier: CA2617391367
Gene: C1R HGNC NCBI

Linked Data

gnomAD v4: 12-7086355-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.7086355T>C , CM000674.2:g.7086355T>C GRCh38
NG_062465.1:g.11253A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000647956.2:c.1117+24A>G MANE Select ENSP00000497341.1:n.1117+24A>G
ENST00000648162.1:n.1089+24A>G
ENST00000649804.1:c.211+24A>G ENSP00000497938.1:n.211+24A>G
ENST00000535233.6:c.1015+24A>G ENSP00000438636.3:n.1015+24A>G
ENST00000536053.6:c.1159+24A>G ENSP00000444271.3:n.1159+24A>G
ENST00000540394.5:n.2182+24A>G
ENST00000542285.5:c.1117+24A>G ENSP00000438615.2:n.1117+24A>G
ENST00000602298.2:n.1466+24A>G
NM_001733.4:c.1117+24A>G NP_001724.3:n.1117+24A>G
NM_001354346.1:c.1159+24A>G NP_001341275.1:n.1159+24A>G
NM_001733.6:c.1117+24A>G NP_001724.4:n.1117+24A>G
NM_001733.7:c.1117+24A>G MANE Select NP_001724.4:n.1117+24A>G
NM_001354346.2:c.1159+24A>G NP_001341275.1:n.1159+24A>G
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