Canonical Allele Identifier: CA403634057

Gene: C3

Linked Data

• dbSNP Id: rs1480297508
• gnomAD v2: 19-6697764-C-A
• gnomAD v4: 19-6697753-C-A
• MyVariant Identifiers: chr19:g.6697764C>A (hg19) ; chr19:g.6697753C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6697753C>A , CM000681.2:g.6697753C>A	GRCh38
NC_000019.9:g.6697764C>A , CM000681.1:g.6697764C>A	GRCh37
NC_000019.8:g.6648764C>A	NCBI36
NG_009557.1:g.27899G>T , LRG_27:g.27899G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.830G>T
ENST00000695652.1:c.2359G>T	ENSP00000512083.1:p.Asp787Tyr
ENST00000695653.1:c.391G>T	ENSP00000512084.1:p.Asp131Tyr
ENST00000695654.1:c.1606G>T	ENSP00000512085.1:p.Asp536Tyr
ENST00000695655.1:c.1423G>T	ENSP00000512086.1:n.1423G>T
ENST00000695692.1:n.1846G>T
ENST00000245907.11:c.2482G>T MANE Select	ENSP00000245907.4:p.Asp828Tyr
ENST00000245907.10:c.2482G>T	ENSP00000245907.4:p.Asp828Tyr
ENST00000602053.1:n.530G>T
NM_000064.3:c.2482G>T	NP_000055.2:p.Asp828Tyr
NM_000064.4:c.2482G>T MANE Select	NP_000055.2:p.Asp828Tyr