Canonical Allele Identifier: CA9128369

Gene: C3

Linked Data

• dbSNP Id: rs756653877
• ExAC: 19:6679440 A / G
• gnomAD v2: 19-6679440-A-G
• gnomAD v4: 19-6679429-A-G
• MyVariant Identifiers: chr19:g.6679440A>G (hg19) ; chr19:g.6679429A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6679429A>G , CM000681.2:g.6679429A>G	GRCh38
NC_000019.9:g.6679440A>G , CM000681.1:g.6679440A>G	GRCh37
NC_000019.8:g.6630440A>G	NCBI36
NG_009557.1:g.46223T>C , LRG_27:g.46223T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000695651.1:n.2872T>C
ENST00000695653.1:c.2433T>C	ENSP00000512084.1:p.Asp811=
ENST00000695654.1:c.3549T>C	ENSP00000512085.1:p.Asp1183=
ENST00000695689.1:c.495T>C	ENSP00000512101.1:n.495T>C
ENST00000695690.1:n.1589T>C
ENST00000695691.1:n.1385T>C
ENST00000245907.11:c.4524T>C MANE Select	ENSP00000245907.4:p.Asp1508=
ENST00000245907.10:c.4524T>C	ENSP00000245907.4:p.Asp1508=
ENST00000599668.1:n.119T>C
ENST00000599899.5:n.1483T>C
ENST00000601008.1:c.242-1471T>C	ENSP00000471384.1:n.242-1471T>C
NM_000064.3:c.4524T>C	NP_000055.2:p.Asp1508=
NM_000064.4:c.4524T>C MANE Select	NP_000055.2:p.Asp1508=