Canonical Allele Identifier: CA9129654

Gene: C3

Linked Data

• ClinVar Variation Id: 892936
• ClinVar RCV Id: RCV001129882 ; RCV001130593 ; RCV001129883 ; RCV001856689
• dbSNP Id: rs146167974
• ExAC: 19:6713459 C / T
• gnomAD v2: 19-6713459-C-T
• gnomAD v3: 19-6713448-C-T
• gnomAD v4: 19-6713448-C-T
• MyVariant Identifiers: chr19:g.6713459C>T (hg19) ; chr19:g.6713448C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6713448C>T , CM000681.2:g.6713448C>T	GRCh38
NC_000019.9:g.6713459C>T , CM000681.1:g.6713459C>T	GRCh37
NC_000019.8:g.6664459C>T	NCBI36
NG_009557.1:g.12204G>A , LRG_27:g.12204G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695652.1:c.712G>A	ENSP00000512083.1:p.Glu238Lys
ENST00000695692.1:n.159G>A
ENST00000245907.11:c.835G>A MANE Select	ENSP00000245907.4:p.Glu279Lys
ENST00000245907.10:c.835G>A	ENSP00000245907.4:p.Glu279Lys
ENST00000595577.1:n.339G>A
ENST00000597442.5:n.85G>A
NM_000064.3:c.835G>A	NP_000055.2:p.Glu279Lys
NM_000064.4:c.835G>A MANE Select	NP_000055.2:p.Glu279Lys