Canonical Allele Identifier: CA9128978

Gene: C3

Linked Data

• ClinVar Variation Id: 1603296
• ClinVar RCV Id: RCV002146953
• dbSNP Id: rs201929376
• ExAC: 19:6697382 G / A
• gnomAD v2: 19-6697382-G-A
• gnomAD v3: 19-6697371-G-A
• gnomAD v4: 19-6697371-G-A
• COSMIC: COSM5486099
• MyVariant Identifiers: chr19:g.6697382G>A (hg19) ; chr19:g.6697371G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6697371G>A , CM000681.2:g.6697371G>A	GRCh38
NC_000019.9:g.6697382G>A , CM000681.1:g.6697382G>A	GRCh37
NC_000019.8:g.6648382G>A	NCBI36
NG_009557.1:g.28281C>T , LRG_27:g.28281C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.1117C>T
ENST00000695652.1:c.2646C>T	ENSP00000512083.1:p.Asp882=
ENST00000695653.1:c.678C>T	ENSP00000512084.1:p.Asp226=
ENST00000695654.1:c.1893C>T	ENSP00000512085.1:p.Asp631=
ENST00000695655.1:c.1710C>T	ENSP00000512086.1:n.1710C>T
ENST00000695692.1:n.2133C>T
ENST00000245907.11:c.2769C>T MANE Select	ENSP00000245907.4:p.Asp923=
ENST00000245907.10:c.2769C>T	ENSP00000245907.4:p.Asp923=
ENST00000594005.1:n.345C>T
NM_000064.3:c.2769C>T	NP_000055.2:p.Asp923=
NM_000064.4:c.2769C>T MANE Select	NP_000055.2:p.Asp923=