Canonical Allele Identifier: CA403612666

Gene: C3

Linked Data

• dbSNP Id: rs1334477793
• gnomAD v2: 19-6679438-T-C
• gnomAD v4: 19-6679427-T-C
• MyVariant Identifiers: chr19:g.6679438T>C (hg19) ; chr19:g.6679427T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6679427T>C , CM000681.2:g.6679427T>C	GRCh38
NC_000019.9:g.6679438T>C , CM000681.1:g.6679438T>C	GRCh37
NC_000019.8:g.6630438T>C	NCBI36
NG_009557.1:g.46225A>G , LRG_27:g.46225A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.2874A>G
ENST00000695653.1:c.2435A>G	ENSP00000512084.1:p.Glu812Gly
ENST00000695654.1:c.3551A>G	ENSP00000512085.1:p.Glu1184Gly
ENST00000695689.1:c.497A>G	ENSP00000512101.1:n.497A>G
ENST00000695690.1:n.1591A>G
ENST00000695691.1:n.1387A>G
ENST00000245907.11:c.4526A>G MANE Select	ENSP00000245907.4:p.Glu1509Gly
ENST00000245907.10:c.4526A>G	ENSP00000245907.4:p.Glu1509Gly
ENST00000599668.1:n.121A>G
ENST00000599899.5:n.1485A>G
ENST00000601008.1:c.242-1469A>G	ENSP00000471384.1:n.242-1469A>G
NM_000064.3:c.4526A>G	NP_000055.2:p.Glu1509Gly
NM_000064.4:c.4526A>G MANE Select	NP_000055.2:p.Glu1509Gly