Canonical Allele Identifier: CA9129022

Gene: C3

Linked Data

• dbSNP Id: rs754516774
• ExAC: 19:6697597 T / C
• gnomAD v2: 19-6697597-T-C
• MyVariant Identifiers: chr19:g.6697597T>C (hg19) ; chr19:g.6697586T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6697586T>C , CM000681.2:g.6697586T>C	GRCh38
NC_000019.9:g.6697597T>C , CM000681.1:g.6697597T>C	GRCh37
NC_000019.8:g.6648597T>C	NCBI36
NG_009557.1:g.28066A>G , LRG_27:g.28066A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.932-30A>G
ENST00000695652.1:c.2461-30A>G	ENSP00000512083.1:n.2461-30A>G
ENST00000695653.1:c.493-30A>G	ENSP00000512084.1:n.493-30A>G
ENST00000695654.1:c.1708-30A>G	ENSP00000512085.1:n.1708-30A>G
ENST00000695655.1:c.1525-30A>G	ENSP00000512086.1:n.1525-30A>G
ENST00000695692.1:n.1948-30A>G
ENST00000245907.11:c.2584-30A>G MANE Select	ENSP00000245907.4:n.2584-30A>G
ENST00000245907.10:c.2584-30A>G	ENSP00000245907.4:n.2584-30A>G
ENST00000594005.1:n.130A>G
NM_000064.3:c.2584-30A>G	NP_000055.2:n.2584-30A>G
NM_000064.4:c.2584-30A>G MANE Select	NP_000055.2:n.2584-30A>G