Canonical Allele Identifier: CA9129346
Gene: C3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1376121
ClinVar RCV Id: RCV001871194 RCV002506943
dbSNP Id: rs140143815
ExAC: 19:6709818 C / T
gnomAD v2: 19-6709818-C-T
gnomAD v3: 19-6709807-C-T
gnomAD v4: 19-6709807-C-T
MyVariant Identifiers: chr19:g.6709818C>T (hg19) chr19:g.6709807C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6709807C>T , CM000681.2:g.6709807C>T GRCh38
NC_000019.9:g.6709818C>T , CM000681.1:g.6709818C>T GRCh37
NC_000019.8:g.6660818C>T NCBI36
NG_009557.1:g.15845G>A , LRG_27:g.15845G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000695652.1:c.1599G>A ENSP00000512083.1:p.Gln533=
ENST00000695654.1:c.846G>A ENSP00000512085.1:p.Gln282=
ENST00000695655.1:c.663G>A ENSP00000512086.1:n.663G>A
ENST00000695692.1:n.1086G>A
ENST00000245907.11:c.1722G>A MANE Select ENSP00000245907.4:p.Gln574=
ENST00000245907.10:c.1722G>A ENSP00000245907.4:p.Gln574=
ENST00000600763.1:n.355G>A
NM_000064.3:c.1722G>A NP_000055.2:p.Gln574=
NM_000064.4:c.1722G>A MANE Select NP_000055.2:p.Gln574=
Search 100 bp 5'
Search 100 bp 3'