Canonical Allele Identifier: CA403633418

Gene: C3

Linked Data

• gnomAD v4: 19-6697525-A-T
• MyVariant Identifiers: chr19:g.6697536A>T (hg19) ; chr19:g.6697525A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6697525A>T , CM000681.2:g.6697525A>T	GRCh38
NC_000019.9:g.6697536A>T , CM000681.1:g.6697536A>T	GRCh37
NC_000019.8:g.6648536A>T	NCBI36
NG_009557.1:g.28127T>A , LRG_27:g.28127T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.963T>A
ENST00000695652.1:c.2492T>A	ENSP00000512083.1:p.Phe831Tyr
ENST00000695653.1:c.524T>A	ENSP00000512084.1:p.Phe175Tyr
ENST00000695654.1:c.1739T>A	ENSP00000512085.1:p.Phe580Tyr
ENST00000695655.1:c.1556T>A	ENSP00000512086.1:n.1556T>A
ENST00000695692.1:n.1979T>A
ENST00000245907.11:c.2615T>A MANE Select	ENSP00000245907.4:p.Phe872Tyr
ENST00000245907.10:c.2615T>A	ENSP00000245907.4:p.Phe872Tyr
ENST00000594005.1:n.191T>A
NM_000064.3:c.2615T>A	NP_000055.2:p.Phe872Tyr
NM_000064.4:c.2615T>A MANE Select	NP_000055.2:p.Phe872Tyr