Canonical Allele Identifier: CA403633993

Gene: C3

Linked Data

• MyVariant Identifiers: chr19:g.6697743G>T (hg19) ; chr19:g.6697732G>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.851C>A
ENST00000695652.1:c.2380C>A	ENSP00000512083.1:p.Leu794Ile
ENST00000695653.1:c.412C>A	ENSP00000512084.1:p.Leu138Ile
ENST00000695654.1:c.1627C>A	ENSP00000512085.1:p.Leu543Ile
ENST00000695655.1:c.1444C>A	ENSP00000512086.1:n.1444C>A
ENST00000695692.1:n.1867C>A
ENST00000245907.11:c.2503C>A MANE Select	ENSP00000245907.4:p.Leu835Ile
ENST00000245907.10:c.2503C>A	ENSP00000245907.4:p.Leu835Ile
ENST00000602053.1:n.551C>A
NM_000064.3:c.2503C>A	NP_000055.2:p.Leu835Ile
NM_000064.4:c.2503C>A MANE Select	NP_000055.2:p.Leu835Ile