Canonical Allele Identifier: CA9129055

Gene: C3

Linked Data

• dbSNP Id: rs762702121
• ExAC: 19:6697744 C / T
• gnomAD v3: 19-6697733-C-T
• gnomAD v4: 19-6697733-C-T
• MyVariant Identifiers: chr19:g.6697744C>T (hg19) ; chr19:g.6697733C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6697733C>T , CM000681.2:g.6697733C>T	GRCh38
NC_000019.9:g.6697744C>T , CM000681.1:g.6697744C>T	GRCh37
NC_000019.8:g.6648744C>T	NCBI36
NG_009557.1:g.27919G>A , LRG_27:g.27919G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.850G>A
ENST00000695652.1:c.2379G>A	ENSP00000512083.1:p.Arg793=
ENST00000695653.1:c.411G>A	ENSP00000512084.1:p.Arg137=
ENST00000695654.1:c.1626G>A	ENSP00000512085.1:p.Arg542=
ENST00000695655.1:c.1443G>A	ENSP00000512086.1:n.1443G>A
ENST00000695692.1:n.1866G>A
ENST00000245907.11:c.2502G>A MANE Select	ENSP00000245907.4:p.Arg834=
ENST00000245907.10:c.2502G>A	ENSP00000245907.4:p.Arg834=
ENST00000602053.1:n.550G>A
NM_000064.3:c.2502G>A	NP_000055.2:p.Arg834=
NM_000064.4:c.2502G>A MANE Select	NP_000055.2:p.Arg834=