Canonical Allele Identifier: CA9128209

Gene: C3

Linked Data

• ClinVar Variation Id: 330271
• ClinVar RCV Id: RCV000279318 ; RCV000337839 ; RCV000395497 ; RCV001281035 ; RCV000948468 ; RCV001820990
• dbSNP Id: rs2230210
• ExAC: 19:6678030 T / G
• gnomAD v2: 19-6678030-T-G
• gnomAD v3: 19-6678019-T-G
• gnomAD v4: 19-6678019-T-G
• MyVariant Identifiers: chr19:g.6678030T>G (hg19) ; chr19:g.6678019T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6678019T>G , CM000681.2:g.6678019T>G	GRCh38
NC_000019.9:g.6678030T>G , CM000681.1:g.6678030T>G	GRCh37
NC_000019.8:g.6629030T>G	NCBI36
NG_009557.1:g.47633A>C , LRG_27:g.47633A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.3203A>C
ENST00000695653.1:c.2764A>C	ENSP00000512084.1:p.Ser922Arg
ENST00000695654.1:c.3880A>C	ENSP00000512085.1:p.Ser1294Arg
ENST00000695689.1:c.826A>C	ENSP00000512101.1:n.826A>C
ENST00000695690.1:n.1920A>C
ENST00000695691.1:n.1716A>C
ENST00000245907.11:c.4855A>C MANE Select	ENSP00000245907.4:p.Ser1619Arg
ENST00000245907.10:c.4855A>C	ENSP00000245907.4:p.Ser1619Arg
ENST00000599668.1:n.475A>C
ENST00000599899.5:n.1814A>C
ENST00000601008.1:c.242-61A>C	ENSP00000471384.1:n.242-61A>C
ENST00000601475.1:n.184A>C
ENST00000602229.1:c.430A>C
NM_000064.3:c.4855A>C	NP_000055.2:p.Ser1619Arg
NM_000064.4:c.4855A>C MANE Select	NP_000055.2:p.Ser1619Arg