Canonical Allele Identifier: CA304786272

Gene: C3

Linked Data

• ClinVar Variation Id: 2030346
• ClinVar RCV Id: RCV002871729
• dbSNP Id: rs121909586
• MyVariant Identifiers: chr19:g.6697684G>A (hg19) ; chr19:g.6697673G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6697673G>A , CM000681.2:g.6697673G>A	GRCh38
NC_000019.9:g.6697684G>A , CM000681.1:g.6697684G>A	GRCh37
NC_000019.8:g.6648684G>A	NCBI36
NG_009557.1:g.27979C>T , LRG_27:g.27979C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.910C>T
ENST00000695652.1:c.2439C>T	ENSP00000512083.1:p.Tyr813=
ENST00000695653.1:c.471C>T	ENSP00000512084.1:p.Tyr157=
ENST00000695654.1:c.1686C>T	ENSP00000512085.1:p.Tyr562=
ENST00000695655.1:c.1503C>T	ENSP00000512086.1:n.1503C>T
ENST00000695692.1:n.1926C>T
ENST00000245907.11:c.2562C>T MANE Select	ENSP00000245907.4:p.Tyr854=
ENST00000245907.10:c.2562C>T	ENSP00000245907.4:p.Tyr854=
ENST00000594005.1:n.43C>T
ENST00000602053.1:n.610C>T
NM_000064.3:c.2562C>T	NP_000055.2:p.Tyr854=
NM_000064.4:c.2562C>T MANE Select	NP_000055.2:p.Tyr854=