Canonical Allele Identifier: CA9128997

Gene: C3

Linked Data

• ClinVar Variation Id: 728181
• ClinVar RCV Id: RCV000902613 ; RCV002502674
• dbSNP Id: rs138884408
• ExAC: 19:6697466 G / A
• gnomAD v2: 19-6697466-G-A
• gnomAD v3: 19-6697455-G-A
• gnomAD v4: 19-6697455-G-A
• MyVariant Identifiers: chr19:g.6697466G>A (hg19) ; chr19:g.6697455G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6697455G>A , CM000681.2:g.6697455G>A	GRCh38
NC_000019.9:g.6697466G>A , CM000681.1:g.6697466G>A	GRCh37
NC_000019.8:g.6648466G>A	NCBI36
NG_009557.1:g.28197C>T , LRG_27:g.28197C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.1033C>T
ENST00000695652.1:c.2562C>T	ENSP00000512083.1:p.Ser854=
ENST00000695653.1:c.594C>T	ENSP00000512084.1:p.Ser198=
ENST00000695654.1:c.1809C>T	ENSP00000512085.1:p.Ser603=
ENST00000695655.1:c.1626C>T	ENSP00000512086.1:n.1626C>T
ENST00000695692.1:n.2049C>T
ENST00000245907.11:c.2685C>T MANE Select	ENSP00000245907.4:p.Ser895=
ENST00000245907.10:c.2685C>T	ENSP00000245907.4:p.Ser895=
ENST00000594005.1:n.261C>T
NM_000064.3:c.2685C>T	NP_000055.2:p.Ser895=
NM_000064.4:c.2685C>T MANE Select	NP_000055.2:p.Ser895=