Canonical Allele Identifier: CA9129051

Gene: C3

Linked Data

• dbSNP Id: rs775489887
• ExAC: 19:6697736 T / G
• gnomAD v2: 19-6697736-T-G
• gnomAD v4: 19-6697725-T-G
• MyVariant Identifiers: chr19:g.6697736T>G (hg19) ; chr19:g.6697725T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6697725T>G , CM000681.2:g.6697725T>G	GRCh38
NC_000019.9:g.6697736T>G , CM000681.1:g.6697736T>G	GRCh37
NC_000019.8:g.6648736T>G	NCBI36
NG_009557.1:g.27927A>C , LRG_27:g.27927A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000695651.1:n.858A>C
ENST00000695652.1:c.2387A>C	ENSP00000512083.1:p.Tyr796Ser
ENST00000695653.1:c.419A>C	ENSP00000512084.1:p.Tyr140Ser
ENST00000695654.1:c.1634A>C	ENSP00000512085.1:p.Tyr545Ser
ENST00000695655.1:c.1451A>C	ENSP00000512086.1:n.1451A>C
ENST00000695692.1:n.1874A>C
ENST00000245907.11:c.2510A>C MANE Select	ENSP00000245907.4:p.Tyr837Ser
ENST00000245907.10:c.2510A>C	ENSP00000245907.4:p.Tyr837Ser
ENST00000602053.1:n.558A>C
NM_000064.3:c.2510A>C	NP_000055.2:p.Tyr837Ser
NM_000064.4:c.2510A>C MANE Select	NP_000055.2:p.Tyr837Ser