Canonical Allele Identifier: CA403612796

Gene: C3

Linked Data

• gnomAD v4: 19-6679458-C-A
• MyVariant Identifiers: chr19:g.6679469C>A (hg19) ; chr19:g.6679458C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6679458C>A , CM000681.2:g.6679458C>A	GRCh38
NC_000019.9:g.6679469C>A , CM000681.1:g.6679469C>A	GRCh37
NC_000019.8:g.6630469C>A	NCBI36
NG_009557.1:g.46194G>T , LRG_27:g.46194G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.2843G>T
ENST00000695653.1:c.2404G>T	ENSP00000512084.1:p.Asp802Tyr
ENST00000695654.1:c.3520G>T	ENSP00000512085.1:p.Asp1174Tyr
ENST00000695689.1:c.466G>T	ENSP00000512101.1:n.466G>T
ENST00000695690.1:n.1560G>T
ENST00000695691.1:n.1356G>T
ENST00000245907.11:c.4495G>T MANE Select	ENSP00000245907.4:p.Asp1499Tyr
ENST00000245907.10:c.4495G>T	ENSP00000245907.4:p.Asp1499Tyr
ENST00000599668.1:n.90G>T
ENST00000599899.5:n.1454G>T
ENST00000601008.1:c.242-1500G>T	ENSP00000471384.1:n.242-1500G>T
NM_000064.3:c.4495G>T	NP_000055.2:p.Asp1499Tyr
NM_000064.4:c.4495G>T MANE Select	NP_000055.2:p.Asp1499Tyr