Canonical Allele Identifier: CA9129311

Gene: C3

Linked Data

• dbSNP Id: rs768225575
• ExAC: 19:6709651 G / C
• gnomAD v2: 19-6709651-G-C
• gnomAD v3: 19-6709640-G-C
• gnomAD v4: 19-6709640-G-C
• MyVariant Identifiers: chr19:g.6709651G>C (hg19) ; chr19:g.6709651_6709652delinsCT (hg19) ; chr19:g.6709640G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6709640G>C , CM000681.2:g.6709640G>C	GRCh38
NC_000019.9:g.6709651G>C , CM000681.1:g.6709651G>C	GRCh37
NC_000019.8:g.6660651G>C	NCBI36
NG_009557.1:g.16012C>G , LRG_27:g.16012C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000695652.1:c.1722+44C>G	ENSP00000512083.1:n.1722+44C>G
ENST00000695654.1:c.969+44C>G	ENSP00000512085.1:n.969+44C>G
ENST00000695655.1:c.786+44C>G	ENSP00000512086.1:n.786+44C>G
ENST00000695692.1:n.1209+44C>G
ENST00000245907.11:c.1845+44C>G MANE Select	ENSP00000245907.4:n.1845+44C>G
ENST00000245907.10:c.1845+44C>G	ENSP00000245907.4:n.1845+44C>G
NM_000064.3:c.1845+44C>G	NP_000055.2:n.1845+44C>G
NM_000064.4:c.1845+44C>G MANE Select	NP_000055.2:n.1845+44C>G