Canonical Allele Identifier: CA9129665
Gene: C3 HGNC NCBI

Linked Data

ClinVar Variation Id: 330334
ClinVar RCV Id: RCV000308536 RCV000352835 RCV000396960 RCV000962655 RCV001795950 RCV002294285
dbSNP Id: rs2230200
ExAC: 19:6713511 G / A
gnomAD v2: 19-6713511-G-A
gnomAD v3: 19-6713500-G-A
gnomAD v4: 19-6713500-G-A
MyVariant Identifiers: chr19:g.6713511G>A (hg19) chr19:g.6713500G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6713500G>A , CM000681.2:g.6713500G>A GRCh38
NC_000019.9:g.6713511G>A , CM000681.1:g.6713511G>A GRCh37
NC_000019.8:g.6664511G>A NCBI36
NG_009557.1:g.12152C>T , LRG_27:g.12152C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000695652.1:c.660C>T ENSP00000512083.1:p.Tyr220=
ENST00000695692.1:n.107C>T
ENST00000245907.11:c.783C>T MANE Select ENSP00000245907.4:p.Tyr261=
ENST00000245907.10:c.783C>T ENSP00000245907.4:p.Tyr261=
ENST00000595577.1:n.287C>T
ENST00000597442.5:n.33C>T
NM_000064.3:c.783C>T NP_000055.2:p.Tyr261=
NM_000064.4:c.783C>T MANE Select NP_000055.2:p.Tyr261=
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