Canonical Allele Identifier: CA403619529

Gene: C3

Linked Data

• MyVariant Identifiers: chr19:g.6686178A>T (hg19) ; chr19:g.6686167A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6686167A>T , CM000681.2:g.6686167A>T	GRCh38
NC_000019.9:g.6686178A>T , CM000681.1:g.6686178A>T	GRCh37
NC_000019.8:g.6637178A>T	NCBI36
NG_009557.1:g.39485T>A , LRG_27:g.39485T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.2115T>A
ENST00000695652.1:c.3644T>A	ENSP00000512083.1:p.Leu1215His
ENST00000695653.1:c.1676T>A	ENSP00000512084.1:p.Leu559His
ENST00000695654.1:c.2792T>A	ENSP00000512085.1:p.Leu931His
ENST00000695655.1:c.2708T>A	ENSP00000512086.1:n.2708T>A
ENST00000695692.1:n.3131T>A
ENST00000245907.11:c.3767T>A MANE Select	ENSP00000245907.4:p.Leu1256His
ENST00000245907.10:c.3767T>A	ENSP00000245907.4:p.Leu1256His
ENST00000596238.1:n.210T>A
ENST00000601008.1:c.241+579T>A	ENSP00000471384.1:n.241+579T>A
NM_000064.3:c.3767T>A	NP_000055.2:p.Leu1256His
NM_000064.4:c.3767T>A MANE Select	NP_000055.2:p.Leu1256His