Canonical Allele Identifier: CA304797694
Gene: C3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1522241
ClinVar RCV Id: RCV002046509
dbSNP Id: rs866279562
gnomAD v2: 19-6713292-C-T
gnomAD v3: 19-6713281-C-T
gnomAD v4: 19-6713281-C-T
MyVariant Identifiers: chr19:g.6713292C>T (hg19) chr19:g.6713281C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6713281C>T , CM000681.2:g.6713281C>T GRCh38
NC_000019.9:g.6713292C>T , CM000681.1:g.6713292C>T GRCh37
NC_000019.8:g.6664292C>T NCBI36
NG_009557.1:g.12371G>A , LRG_27:g.12371G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000695652.1:c.788G>A ENSP00000512083.1:p.Arg263Gln
ENST00000695654.1:c.35G>A ENSP00000512085.1:p.Arg12Gln
ENST00000695692.1:n.235G>A
ENST00000245907.11:c.911G>A MANE Select ENSP00000245907.4:p.Arg304Gln
ENST00000245907.10:c.911G>A ENSP00000245907.4:p.Arg304Gln
ENST00000594270.5:n.35G>A
ENST00000595577.1:n.415G>A
ENST00000597442.5:n.161G>A
NM_000064.3:c.911G>A NP_000055.2:p.Arg304Gln
NM_000064.4:c.911G>A MANE Select NP_000055.2:p.Arg304Gln
Search 100 bp 5'
Search 100 bp 3'