Canonical Allele Identifier: CA9129054

Gene: C3

Linked Data

• dbSNP Id: rs773167430
• ExAC: 19:6697743 G / A
• gnomAD v2: 19-6697743-G-A
• gnomAD v4: 19-6697732-G-A
• MyVariant Identifiers: chr19:g.6697743G>A (hg19) ; chr19:g.6697732G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6697732G>A , CM000681.2:g.6697732G>A	GRCh38
NC_000019.9:g.6697743G>A , CM000681.1:g.6697743G>A	GRCh37
NC_000019.8:g.6648743G>A	NCBI36
NG_009557.1:g.27920C>T , LRG_27:g.27920C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.851C>T
ENST00000695652.1:c.2380C>T	ENSP00000512083.1:p.Leu794=
ENST00000695653.1:c.412C>T	ENSP00000512084.1:p.Leu138=
ENST00000695654.1:c.1627C>T	ENSP00000512085.1:p.Leu543=
ENST00000695655.1:c.1444C>T	ENSP00000512086.1:n.1444C>T
ENST00000695692.1:n.1867C>T
ENST00000245907.11:c.2503C>T MANE Select	ENSP00000245907.4:p.Leu835=
ENST00000245907.10:c.2503C>T	ENSP00000245907.4:p.Leu835=
ENST00000602053.1:n.551C>T
NM_000064.3:c.2503C>T	NP_000055.2:p.Leu835=
NM_000064.4:c.2503C>T MANE Select	NP_000055.2:p.Leu835=