Canonical Allele Identifier: CA9128659

Gene: C3

Linked Data

• dbSNP Id: rs147113695
• ExAC: 19:6686257 C / T
• gnomAD v2: 19-6686257-C-T
• gnomAD v3: 19-6686246-C-T
• gnomAD v4: 19-6686246-C-T
• MyVariant Identifiers: chr19:g.6686257C>T (hg19) ; chr19:g.6686246C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6686246C>T , CM000681.2:g.6686246C>T	GRCh38
NC_000019.9:g.6686257C>T , CM000681.1:g.6686257C>T	GRCh37
NC_000019.8:g.6637257C>T	NCBI36
NG_009557.1:g.39406G>A , LRG_27:g.39406G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.2036G>A
ENST00000695652.1:c.3565G>A	ENSP00000512083.1:p.Val1189Met
ENST00000695653.1:c.1597G>A	ENSP00000512084.1:p.Val533Met
ENST00000695654.1:c.2713G>A	ENSP00000512085.1:p.Val905Met
ENST00000695655.1:c.2629G>A	ENSP00000512086.1:n.2629G>A
ENST00000695692.1:n.3052G>A
ENST00000245907.11:c.3688G>A MANE Select	ENSP00000245907.4:p.Val1230Met
ENST00000245907.10:c.3688G>A	ENSP00000245907.4:p.Val1230Met
ENST00000596238.1:n.131G>A
ENST00000601008.1:c.241+500G>A	ENSP00000471384.1:n.241+500G>A
NM_000064.3:c.3688G>A	NP_000055.2:p.Val1230Met
NM_000064.4:c.3688G>A MANE Select	NP_000055.2:p.Val1230Met