Canonical Allele Identifier: CA403634009

Gene: C3

Linked Data

• gnomAD v4: 19-6697741-C-A
• MyVariant Identifiers: chr19:g.6697752C>A (hg19) ; chr19:g.6697741C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6697741C>A , CM000681.2:g.6697741C>A	GRCh38
NC_000019.9:g.6697752C>A , CM000681.1:g.6697752C>A	GRCh37
NC_000019.8:g.6648752C>A	NCBI36
NG_009557.1:g.27911G>T , LRG_27:g.27911G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.842G>T
ENST00000695652.1:c.2371G>T	ENSP00000512083.1:p.Asp791Tyr
ENST00000695653.1:c.403G>T	ENSP00000512084.1:p.Asp135Tyr
ENST00000695654.1:c.1618G>T	ENSP00000512085.1:p.Asp540Tyr
ENST00000695655.1:c.1435G>T	ENSP00000512086.1:n.1435G>T
ENST00000695692.1:n.1858G>T
ENST00000245907.11:c.2494G>T MANE Select	ENSP00000245907.4:p.Asp832Tyr
ENST00000245907.10:c.2494G>T	ENSP00000245907.4:p.Asp832Tyr
ENST00000602053.1:n.542G>T
NM_000064.3:c.2494G>T	NP_000055.2:p.Asp832Tyr
NM_000064.4:c.2494G>T MANE Select	NP_000055.2:p.Asp832Tyr