Canonical Allele Identifier: CA9129036
Gene: C3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1902305
ClinVar RCV Id: RCV002572762 RCV003916487
dbSNP Id: rs765023130
ExAC: 19:6697679 T / C
gnomAD v2: 19-6697679-T-C
gnomAD v3: 19-6697668-T-C
gnomAD v4: 19-6697668-T-C
MyVariant Identifiers: chr19:g.6697679T>C (hg19) chr19:g.6697668T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6697668T>C , CM000681.2:g.6697668T>C GRCh38
NC_000019.9:g.6697679T>C , CM000681.1:g.6697679T>C GRCh37
NC_000019.8:g.6648679T>C NCBI36
NG_009557.1:g.27984A>G , LRG_27:g.27984A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000695651.1:n.915A>G
ENST00000695652.1:c.2444A>G ENSP00000512083.1:p.Gln815Arg
ENST00000695653.1:c.476A>G ENSP00000512084.1:p.Gln159Arg
ENST00000695654.1:c.1691A>G ENSP00000512085.1:p.Gln564Arg
ENST00000695655.1:c.1508A>G ENSP00000512086.1:n.1508A>G
ENST00000695692.1:n.1931A>G
ENST00000245907.11:c.2567A>G MANE Select ENSP00000245907.4:p.Gln856Arg
ENST00000245907.10:c.2567A>G ENSP00000245907.4:p.Gln856Arg
ENST00000594005.1:n.48A>G
ENST00000602053.1:n.615A>G
NM_000064.3:c.2567A>G NP_000055.2:p.Gln856Arg
NM_000064.4:c.2567A>G MANE Select NP_000055.2:p.Gln856Arg
Search 100 bp 5'
Search 100 bp 3'