Canonical Allele Identifier: CA9129330
Gene: C3 HGNC NCBI

Linked Data

ClinVar Variation Id: 3002296
ClinVar RCV Id: RCV003865423
dbSNP Id: rs780787862
ExAC: 19:6709731 G / A
gnomAD v2: 19-6709731-G-A
gnomAD v3: 19-6709720-G-A
gnomAD v4: 19-6709720-G-A
COSMIC: COSM3541017
MyVariant Identifiers: chr19:g.6709731G>A (hg19) chr19:g.6709720G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6709720G>A , CM000681.2:g.6709720G>A GRCh38
NC_000019.9:g.6709731G>A , CM000681.1:g.6709731G>A GRCh37
NC_000019.8:g.6660731G>A NCBI36
NG_009557.1:g.15932C>T , LRG_27:g.15932C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000695652.1:c.1686C>T ENSP00000512083.1:p.Phe562=
ENST00000695654.1:c.933C>T ENSP00000512085.1:p.Phe311=
ENST00000695655.1:c.750C>T ENSP00000512086.1:n.750C>T
ENST00000695692.1:n.1173C>T
ENST00000245907.11:c.1809C>T MANE Select ENSP00000245907.4:p.Phe603=
ENST00000245907.10:c.1809C>T ENSP00000245907.4:p.Phe603=
NM_000064.3:c.1809C>T NP_000055.2:p.Phe603=
NM_000064.4:c.1809C>T MANE Select NP_000055.2:p.Phe603=
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