Canonical Allele Identifier: CA9128676

Gene: C3

Linked Data

• dbSNP Id: rs752452930
• ExAC: 19:6686349 G / A
• gnomAD v2: 19-6686349-G-A
• gnomAD v4: 19-6686338-G-A
• MyVariant Identifiers: chr19:g.6686349G>A (hg19) ; chr19:g.6686338G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6686338G>A , CM000681.2:g.6686338G>A	GRCh38
NC_000019.9:g.6686349G>A , CM000681.1:g.6686349G>A	GRCh37
NC_000019.8:g.6637349G>A	NCBI36
NG_009557.1:g.39314C>T , LRG_27:g.39314C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.1995-51C>T
ENST00000695652.1:c.3524-51C>T	ENSP00000512083.1:n.3524-51C>T
ENST00000695653.1:c.1556-51C>T	ENSP00000512084.1:n.1556-51C>T
ENST00000695654.1:c.2672-51C>T	ENSP00000512085.1:n.2672-51C>T
ENST00000695655.1:c.2588-51C>T	ENSP00000512086.1:n.2588-51C>T
ENST00000695692.1:n.3011-51C>T
ENST00000245907.11:c.3647-51C>T MANE Select	ENSP00000245907.4:n.3647-51C>T
ENST00000245907.10:c.3647-51C>T	ENSP00000245907.4:n.3647-51C>T
ENST00000596238.1:n.39C>T
ENST00000598805.2:n.824C>T
ENST00000601008.1:c.241+408C>T	ENSP00000471384.1:n.241+408C>T
NM_000064.3:c.3647-51C>T	NP_000055.2:n.3647-51C>T
NM_000064.4:c.3647-51C>T MANE Select	NP_000055.2:n.3647-51C>T