Canonical Allele Identifier: CA9129008
Gene: C3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2198211
ClinVar RCV Id: RCV002640360
dbSNP Id: rs550715718
ExAC: 19:6697485 G / T
gnomAD v2: 19-6697485-G-T
gnomAD v3: 19-6697474-G-T
gnomAD v4: 19-6697474-G-T
MyVariant Identifiers: chr19:g.6697485G>T (hg19) chr19:g.6697474G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6697474G>T , CM000681.2:g.6697474G>T GRCh38
NC_000019.9:g.6697485G>T , CM000681.1:g.6697485G>T GRCh37
NC_000019.8:g.6648485G>T NCBI36
NG_009557.1:g.28178C>A , LRG_27:g.28178C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000695651.1:n.1014C>A
ENST00000695652.1:c.2543C>A ENSP00000512083.1:p.Pro848His
ENST00000695653.1:c.575C>A ENSP00000512084.1:p.Pro192His
ENST00000695654.1:c.1790C>A ENSP00000512085.1:p.Pro597His
ENST00000695655.1:c.1607C>A ENSP00000512086.1:n.1607C>A
ENST00000695692.1:n.2030C>A
ENST00000245907.11:c.2666C>A MANE Select ENSP00000245907.4:p.Pro889His
ENST00000245907.10:c.2666C>A ENSP00000245907.4:p.Pro889His
ENST00000594005.1:n.242C>A
NM_000064.3:c.2666C>A NP_000055.2:p.Pro889His
NM_000064.4:c.2666C>A MANE Select NP_000055.2:p.Pro889His
Search 100 bp 5'
Search 100 bp 3'