Canonical Allele Identifier: CA9129004
Gene: C3 HGNC NCBI

Linked Data

ClinVar Variation Id: 3001428
ClinVar RCV Id: RCV003852571
dbSNP Id: rs753876258
gnomAD v2: 19-6697482-G-T
gnomAD v3: 19-6697471-G-T
gnomAD v4: 19-6697471-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6697471G>T , CM000681.2:g.6697471G>T GRCh38
NC_000019.9:g.6697482G>T , CM000681.1:g.6697482G>T GRCh37
NC_000019.8:g.6648482G>T NCBI36
NG_009557.1:g.28181C>A , LRG_27:g.28181C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000695651.1:n.1017C>A
ENST00000695652.1:c.2546C>A ENSP00000512083.1:p.Pro849His
ENST00000695653.1:c.578C>A ENSP00000512084.1:p.Pro193His
ENST00000695654.1:c.1793C>A ENSP00000512085.1:p.Pro598His
ENST00000695655.1:c.1610C>A ENSP00000512086.1:n.1610C>A
ENST00000695692.1:n.2033C>A
ENST00000245907.11:c.2669C>A MANE Select ENSP00000245907.4:p.Pro890His
ENST00000245907.10:c.2669C>A ENSP00000245907.4:p.Pro890His
ENST00000594005.1:n.245C>A
NM_000064.3:c.2669C>A NP_000055.2:p.Pro890His
NM_000064.4:c.2669C>A MANE Select NP_000055.2:p.Pro890His