Canonical Allele Identifier: CA9128975

Gene: C3

Linked Data

• ClinVar Variation Id: 892765
• ClinVar RCV Id: RCV001129350 ; RCV001129351 ; RCV001129352
• dbSNP Id: rs781226831
• ExAC: 19:6697358 G / A
• gnomAD v2: 19-6697358-G-A
• gnomAD v4: 19-6697347-G-A
• MyVariant Identifiers: chr19:g.6697358G>A (hg19) ; chr19:g.6697347G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6697347G>A , CM000681.2:g.6697347G>A	GRCh38
NC_000019.9:g.6697358G>A , CM000681.1:g.6697358G>A	GRCh37
NC_000019.8:g.6648358G>A	NCBI36
NG_009557.1:g.28305C>T , LRG_27:g.28305C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.1141C>T
ENST00000695652.1:c.2670C>T	ENSP00000512083.1:p.Val890=
ENST00000695653.1:c.702C>T	ENSP00000512084.1:p.Val234=
ENST00000695654.1:c.1917C>T	ENSP00000512085.1:p.Val639=
ENST00000695655.1:c.1734C>T	ENSP00000512086.1:n.1734C>T
ENST00000695692.1:n.2157C>T
ENST00000245907.11:c.2793C>T MANE Select	ENSP00000245907.4:p.Val931=
ENST00000245907.10:c.2793C>T	ENSP00000245907.4:p.Val931=
ENST00000594005.1:n.369C>T
NM_000064.3:c.2793C>T	NP_000055.2:p.Val931=
NM_000064.4:c.2793C>T MANE Select	NP_000055.2:p.Val931=