Canonical Allele Identifier: CA9129015

Gene: C3

Linked Data

• dbSNP Id: rs11569472
• ExAC: 19:6697563 C / T
• gnomAD v2: 19-6697563-C-T
• MyVariant Identifiers: chr19:g.6697563C>T (hg19) ; chr19:g.6697552C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6697552C>T , CM000681.2:g.6697552C>T	GRCh38
NC_000019.9:g.6697563C>T , CM000681.1:g.6697563C>T	GRCh37
NC_000019.8:g.6648563C>T	NCBI36
NG_009557.1:g.28100G>A , LRG_27:g.28100G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.936G>A
ENST00000695652.1:c.2465G>A	ENSP00000512083.1:p.Arg822Lys
ENST00000695653.1:c.497G>A	ENSP00000512084.1:p.Arg166Lys
ENST00000695654.1:c.1712G>A	ENSP00000512085.1:p.Arg571Lys
ENST00000695655.1:c.1529G>A	ENSP00000512086.1:n.1529G>A
ENST00000695692.1:n.1952G>A
ENST00000245907.11:c.2588G>A MANE Select	ENSP00000245907.4:p.Arg863Lys
ENST00000245907.10:c.2588G>A	ENSP00000245907.4:p.Arg863Lys
ENST00000594005.1:n.164G>A
NM_000064.3:c.2588G>A	NP_000055.2:p.Arg863Lys
NM_000064.4:c.2588G>A MANE Select	NP_000055.2:p.Arg863Lys