Canonical Allele Identifier: CA403612878

Gene: C3

Linked Data

• gnomAD v4: 19-6679493-T-G
• MyVariant Identifiers: chr19:g.6679504T>G (hg19) ; chr19:g.6679493T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6679493T>G , CM000681.2:g.6679493T>G	GRCh38
NC_000019.9:g.6679504T>G , CM000681.1:g.6679504T>G	GRCh37
NC_000019.8:g.6630504T>G	NCBI36
NG_009557.1:g.46159A>C , LRG_27:g.46159A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.2808A>C
ENST00000695653.1:c.2369A>C	ENSP00000512084.1:p.Glu790Ala
ENST00000695654.1:c.3485A>C	ENSP00000512085.1:p.Glu1162Ala
ENST00000695689.1:c.431A>C	ENSP00000512101.1:n.431A>C
ENST00000695690.1:n.1525A>C
ENST00000695691.1:n.1321A>C
ENST00000245907.11:c.4460A>C MANE Select	ENSP00000245907.4:p.Glu1487Ala
ENST00000245907.10:c.4460A>C	ENSP00000245907.4:p.Glu1487Ala
ENST00000599668.1:n.55A>C
ENST00000599899.5:n.1419A>C
ENST00000601008.1:c.242-1535A>C	ENSP00000471384.1:n.242-1535A>C
NM_000064.3:c.4460A>C	NP_000055.2:p.Glu1487Ala
NM_000064.4:c.4460A>C MANE Select	NP_000055.2:p.Glu1487Ala