Canonical Allele Identifier: CA9129668
Gene: C3 HGNC NCBI

Linked Data

ClinVar Variation Id: 330335
ClinVar RCV Id: RCV000273085 RCV000309466 RCV000363187 RCV002294286 RCV002057542
dbSNP Id: rs368095422
ExAC: 19:6713524 C / T
gnomAD v2: 19-6713524-C-T
gnomAD v3: 19-6713513-C-T
gnomAD v4: 19-6713513-C-T
MyVariant Identifiers: chr19:g.6713524C>T (hg19) chr19:g.6713513C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6713513C>T , CM000681.2:g.6713513C>T GRCh38
NC_000019.9:g.6713524C>T , CM000681.1:g.6713524C>T GRCh37
NC_000019.8:g.6664524C>T NCBI36
NG_009557.1:g.12139G>A , LRG_27:g.12139G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000695652.1:c.651-4G>A ENSP00000512083.1:n.651-4G>A
ENST00000695692.1:n.94G>A
ENST00000245907.11:c.774-4G>A MANE Select ENSP00000245907.4:n.774-4G>A
ENST00000245907.10:c.774-4G>A ENSP00000245907.4:n.774-4G>A
ENST00000595577.1:n.278-4G>A
ENST00000597442.5:n.24-4G>A
NM_000064.3:c.774-4G>A NP_000055.2:n.774-4G>A
NM_000064.4:c.774-4G>A MANE Select NP_000055.2:n.774-4G>A
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