Canonical Allele Identifier: CA9129285
Gene: C3 HGNC NCBI

Linked Data

ClinVar Variation Id: 330315
ClinVar RCV Id: RCV002057538
dbSNP Id: rs144432231
ExAC: 19:6707913 T / A
gnomAD v2: 19-6707913-T-A
gnomAD v3: 19-6707902-T-A
gnomAD v4: 19-6707902-T-A
MyVariant Identifiers: chr19:g.6707913T>A (hg19) chr19:g.6707902T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6707902T>A , CM000681.2:g.6707902T>A GRCh38
NC_000019.9:g.6707913T>A , CM000681.1:g.6707913T>A GRCh37
NC_000019.8:g.6658913T>A NCBI36
NG_009557.1:g.17750A>T , LRG_27:g.17750A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000695651.1:n.144A>T
ENST00000695652.1:c.1750A>T ENSP00000512083.1:p.Ile584Phe
ENST00000695654.1:c.997A>T ENSP00000512085.1:p.Ile333Phe
ENST00000695655.1:c.814A>T ENSP00000512086.1:n.814A>T
ENST00000695692.1:n.1237A>T
ENST00000245907.11:c.1873A>T MANE Select ENSP00000245907.4:p.Ile625Phe
ENST00000245907.10:c.1873A>T ENSP00000245907.4:p.Ile625Phe
NM_000064.3:c.1873A>T NP_000055.2:p.Ile625Phe
NM_000064.4:c.1873A>T MANE Select NP_000055.2:p.Ile625Phe
Search 100 bp 5'
Search 100 bp 3'