Canonical Allele Identifier: CA2617391418
Gene: C1R HGNC NCBI

Linked Data

gnomAD v4: 12-7086430-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.7086430C>T , CM000674.2:g.7086430C>T GRCh38
NG_062465.1:g.11178G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000647956.2:c.1066G>A MANE Select ENSP00000497341.1:p.Ala356Thr
ENST00000648162.1:n.1038G>A
ENST00000649804.1:c.160G>A ENSP00000497938.1:p.Ala54Thr
ENST00000535233.6:c.964G>A ENSP00000438636.3:p.Ala322Thr
ENST00000536053.6:c.1108G>A ENSP00000444271.3:p.Ala370Thr
ENST00000540394.5:n.2131G>A
ENST00000542285.5:c.1066G>A ENSP00000438615.2:p.Ala356Thr
ENST00000602298.2:n.1415G>A
NM_001733.4:c.1066G>A NP_001724.3:p.Ala356Thr
NM_001354346.1:c.1108G>A NP_001341275.1:p.Ala370Thr
NM_001733.6:c.1066G>A NP_001724.4:p.Ala356Thr
NM_001733.7:c.1066G>A MANE Select NP_001724.4:p.Ala356Thr
NM_001354346.2:c.1108G>A NP_001341275.1:p.Ala370Thr
Search 100 bp 5'
Search 100 bp 3'