Canonical Allele Identifier: CA505192620

Gene: C3

Linked Data

• ClinVar Variation Id: 2831664
• ClinVar RCV Id: RCV003686709
• dbSNP Id: rs1425995053
• gnomAD v2: 19-6697786-G-C
• gnomAD v4: 19-6697775-G-C
• MyVariant Identifiers: chr19:g.6697786G>C (hg19) ; chr19:g.6697775G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6697775G>C , CM000681.2:g.6697775G>C	GRCh38
NC_000019.9:g.6697786G>C , CM000681.1:g.6697786G>C	GRCh37
NC_000019.8:g.6648786G>C	NCBI36
NG_009557.1:g.27877C>G , LRG_27:g.27877C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.808C>G
ENST00000695652.1:c.2337C>G	ENSP00000512083.1:p.Pro779=
ENST00000695653.1:c.369C>G	ENSP00000512084.1:p.Pro123=
ENST00000695654.1:c.1584C>G	ENSP00000512085.1:p.Pro528=
ENST00000695655.1:c.1401C>G	ENSP00000512086.1:n.1401C>G
ENST00000695692.1:n.1824C>G
ENST00000245907.11:c.2460C>G MANE Select	ENSP00000245907.4:p.Pro820=
ENST00000245907.10:c.2460C>G	ENSP00000245907.4:p.Pro820=
ENST00000602053.1:n.508C>G
NM_000064.3:c.2460C>G	NP_000055.2:p.Pro820=
NM_000064.4:c.2460C>G MANE Select	NP_000055.2:p.Pro820=