Canonical Allele Identifier: CA9129046

Gene: C3

Linked Data

• dbSNP Id: rs749656023
• ExAC: 19:6697714 C / T
• gnomAD v4: 19-6697703-C-T
• MyVariant Identifiers: chr19:g.6697714C>T (hg19) ; chr19:g.6697703C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6697703C>T , CM000681.2:g.6697703C>T	GRCh38
NC_000019.9:g.6697714C>T , CM000681.1:g.6697714C>T	GRCh37
NC_000019.8:g.6648714C>T	NCBI36
NG_009557.1:g.27949G>A , LRG_27:g.27949G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.880G>A
ENST00000695652.1:c.2409G>A	ENSP00000512083.1:p.Gln803=
ENST00000695653.1:c.441G>A	ENSP00000512084.1:p.Gln147=
ENST00000695654.1:c.1656G>A	ENSP00000512085.1:p.Gln552=
ENST00000695655.1:c.1473G>A	ENSP00000512086.1:n.1473G>A
ENST00000695692.1:n.1896G>A
ENST00000245907.11:c.2532G>A MANE Select	ENSP00000245907.4:p.Gln844=
ENST00000245907.10:c.2532G>A	ENSP00000245907.4:p.Gln844=
ENST00000594005.1:n.13G>A
ENST00000602053.1:n.580G>A
NM_000064.3:c.2532G>A	NP_000055.2:p.Gln844=
NM_000064.4:c.2532G>A MANE Select	NP_000055.2:p.Gln844=