Canonical Allele Identifier: CA9129057

Gene: C3

Linked Data

• ClinVar Variation Id: 797707
• ClinVar RCV Id: RCV000981181
• dbSNP Id: rs554299798
• ExAC: 19:6697753 G / A
• gnomAD v2: 19-6697753-G-A
• gnomAD v3: 19-6697742-G-A
• gnomAD v4: 19-6697742-G-A
• MyVariant Identifiers: chr19:g.6697753G>A (hg19) ; chr19:g.6697742G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6697742G>A , CM000681.2:g.6697742G>A	GRCh38
NC_000019.9:g.6697753G>A , CM000681.1:g.6697753G>A	GRCh37
NC_000019.8:g.6648753G>A	NCBI36
NG_009557.1:g.27910C>T , LRG_27:g.27910C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.841C>T
ENST00000695652.1:c.2370C>T	ENSP00000512083.1:p.Ile790=
ENST00000695653.1:c.402C>T	ENSP00000512084.1:p.Ile134=
ENST00000695654.1:c.1617C>T	ENSP00000512085.1:p.Ile539=
ENST00000695655.1:c.1434C>T	ENSP00000512086.1:n.1434C>T
ENST00000695692.1:n.1857C>T
ENST00000245907.11:c.2493C>T MANE Select	ENSP00000245907.4:p.Ile831=
ENST00000245907.10:c.2493C>T	ENSP00000245907.4:p.Ile831=
ENST00000602053.1:n.541C>T
NM_000064.3:c.2493C>T	NP_000055.2:p.Ile831=
NM_000064.4:c.2493C>T MANE Select	NP_000055.2:p.Ile831=