Canonical Allele Identifier: CA403612804

Gene: C3

Linked Data

• COSMIC: COSM5391062
• MyVariant Identifiers: chr19:g.6679472C>T (hg19) ; chr19:g.6679461C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6679461C>T , CM000681.2:g.6679461C>T	GRCh38
NC_000019.9:g.6679472C>T , CM000681.1:g.6679472C>T	GRCh37
NC_000019.8:g.6630472C>T	NCBI36
NG_009557.1:g.46191G>A , LRG_27:g.46191G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.2840G>A
ENST00000695653.1:c.2401G>A	ENSP00000512084.1:p.Glu801Lys
ENST00000695654.1:c.3517G>A	ENSP00000512085.1:p.Glu1173Lys
ENST00000695689.1:c.463G>A	ENSP00000512101.1:n.463G>A
ENST00000695690.1:n.1557G>A
ENST00000695691.1:n.1353G>A
ENST00000245907.11:c.4492G>A MANE Select	ENSP00000245907.4:p.Glu1498Lys
ENST00000245907.10:c.4492G>A	ENSP00000245907.4:p.Glu1498Lys
ENST00000599668.1:n.87G>A
ENST00000599899.5:n.1451G>A
ENST00000601008.1:c.242-1503G>A	ENSP00000471384.1:n.242-1503G>A
NM_000064.3:c.4492G>A	NP_000055.2:p.Glu1498Lys
NM_000064.4:c.4492G>A MANE Select	NP_000055.2:p.Glu1498Lys