Canonical Allele Identifier: CA9129359
Gene: C3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2954963
ClinVar RCV Id: RCV003816162
dbSNP Id: rs776532543
ExAC: 19:6709872 C / T
gnomAD v2: 19-6709872-C-T
gnomAD v3: 19-6709861-C-T
gnomAD v4: 19-6709861-C-T
MyVariant Identifiers: chr19:g.6709872C>T (hg19) chr19:g.6709861C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6709861C>T , CM000681.2:g.6709861C>T GRCh38
NC_000019.9:g.6709872C>T , CM000681.1:g.6709872C>T GRCh37
NC_000019.8:g.6660872C>T NCBI36
NG_009557.1:g.15791G>A , LRG_27:g.15791G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000695652.1:c.1564-19G>A ENSP00000512083.1:n.1564-19G>A
ENST00000695654.1:c.811-19G>A ENSP00000512085.1:n.811-19G>A
ENST00000695655.1:c.609G>A ENSP00000512086.1:n.609G>A
ENST00000695692.1:n.1051-19G>A
ENST00000245907.11:c.1687-19G>A MANE Select ENSP00000245907.4:n.1687-19G>A
ENST00000245907.10:c.1687-19G>A ENSP00000245907.4:n.1687-19G>A
ENST00000600763.1:n.320-19G>A
NM_000064.3:c.1687-19G>A NP_000055.2:n.1687-19G>A
NM_000064.4:c.1687-19G>A MANE Select NP_000055.2:n.1687-19G>A
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