Canonical Allele Identifier: CA9128642
Gene: C3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2397781
ClinVar RCV Id: RCV002739107 RCV003720750
dbSNP Id: rs571907143
ExAC: 19:6686184 C / T
gnomAD v2: 19-6686184-C-T
gnomAD v3: 19-6686173-C-T
gnomAD v4: 19-6686173-C-T
COSMIC: COSM179550
MyVariant Identifiers: chr19:g.6686184C>T (hg19) chr19:g.6686173C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6686173C>T , CM000681.2:g.6686173C>T GRCh38
NC_000019.9:g.6686184C>T , CM000681.1:g.6686184C>T GRCh37
NC_000019.8:g.6637184C>T NCBI36
NG_009557.1:g.39479G>A , LRG_27:g.39479G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000695651.1:n.2109G>A
ENST00000695652.1:c.3638G>A ENSP00000512083.1:p.Arg1213His
ENST00000695653.1:c.1670G>A ENSP00000512084.1:p.Arg557His
ENST00000695654.1:c.2786G>A ENSP00000512085.1:p.Arg929His
ENST00000695655.1:c.2702G>A ENSP00000512086.1:n.2702G>A
ENST00000695692.1:n.3125G>A
ENST00000245907.11:c.3761G>A MANE Select ENSP00000245907.4:p.Arg1254His
ENST00000245907.10:c.3761G>A ENSP00000245907.4:p.Arg1254His
ENST00000596238.1:n.204G>A
ENST00000601008.1:c.241+573G>A ENSP00000471384.1:n.241+573G>A
NM_000064.3:c.3761G>A NP_000055.2:p.Arg1254His
NM_000064.4:c.3761G>A MANE Select NP_000055.2:p.Arg1254His
Search 100 bp 5'
Search 100 bp 3'