Canonical Allele Identifier: CA2576661559
Gene: C3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2108410
ClinVar RCV Id: RCV003034160
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6697460dup , CM000681.2:g.6697460dup GRCh38
NC_000019.9:g.6697471dup , CM000681.1:g.6697471dup GRCh37
NC_000019.8:g.6648471dup NCBI36
NG_009557.1:g.28193dup , LRG_27:g.28193dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000695651.1:n.1029dup
ENST00000695652.1:c.2558dup ENSP00000512083.1:p.Leu853PhefsTer30
ENST00000695653.1:c.590dup ENSP00000512084.1:p.Leu197PhefsTer30
ENST00000695654.1:c.1805dup ENSP00000512085.1:p.Leu602PhefsTer30
ENST00000695655.1:c.1622dup ENSP00000512086.1:n.1622dup
ENST00000695692.1:n.2045dup
ENST00000245907.11:c.2681dup MANE Select ENSP00000245907.4:p.Leu894PhefsTer30
ENST00000245907.10:c.2681dup ENSP00000245907.4:p.Leu894PhefsTer30
ENST00000594005.1:n.257dup
NM_000064.3:c.2681dup NP_000055.2:p.Leu894PhefsTer30
NM_000064.4:c.2681dup MANE Select NP_000055.2:p.Leu894PhefsTer30
Search 100 bp 5'
Search 100 bp 3'