Canonical Allele Identifier: CA9129052

Gene: C3

Linked Data

• dbSNP Id: rs761759483
• ExAC: 19:6697737 A / G
• gnomAD v2: 19-6697737-A-G
• MyVariant Identifiers: chr19:g.6697737A>G (hg19) ; chr19:g.6697726A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6697726A>G , CM000681.2:g.6697726A>G	GRCh38
NC_000019.9:g.6697737A>G , CM000681.1:g.6697737A>G	GRCh37
NC_000019.8:g.6648737A>G	NCBI36
NG_009557.1:g.27926T>C , LRG_27:g.27926T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000695651.1:n.857T>C
ENST00000695652.1:c.2386T>C	ENSP00000512083.1:p.Tyr796His
ENST00000695653.1:c.418T>C	ENSP00000512084.1:p.Tyr140His
ENST00000695654.1:c.1633T>C	ENSP00000512085.1:p.Tyr545His
ENST00000695655.1:c.1450T>C	ENSP00000512086.1:n.1450T>C
ENST00000695692.1:n.1873T>C
ENST00000245907.11:c.2509T>C MANE Select	ENSP00000245907.4:p.Tyr837His
ENST00000245907.10:c.2509T>C	ENSP00000245907.4:p.Tyr837His
ENST00000602053.1:n.557T>C
NM_000064.3:c.2509T>C	NP_000055.2:p.Tyr837His
NM_000064.4:c.2509T>C MANE Select	NP_000055.2:p.Tyr837His