Canonical Allele Identifier: CA403612769
Gene: C3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6679448A>T , CM000681.2:g.6679448A>T GRCh38
NC_000019.9:g.6679459A>T , CM000681.1:g.6679459A>T GRCh37
NC_000019.8:g.6630459A>T NCBI36
NG_009557.1:g.46204T>A , LRG_27:g.46204T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000695651.1:n.2853T>A
ENST00000695653.1:c.2414T>A ENSP00000512084.1:p.Leu805Gln
ENST00000695654.1:c.3530T>A ENSP00000512085.1:p.Leu1177Gln
ENST00000695689.1:c.476T>A ENSP00000512101.1:n.476T>A
ENST00000695690.1:n.1570T>A
ENST00000695691.1:n.1366T>A
ENST00000245907.11:c.4505T>A MANE Select ENSP00000245907.4:p.Leu1502Gln
ENST00000245907.10:c.4505T>A ENSP00000245907.4:p.Leu1502Gln
ENST00000599668.1:n.100T>A
ENST00000599899.5:n.1464T>A
ENST00000601008.1:c.242-1490T>A ENSP00000471384.1:n.242-1490T>A
NM_000064.3:c.4505T>A NP_000055.2:p.Leu1502Gln
NM_000064.4:c.4505T>A MANE Select NP_000055.2:p.Leu1502Gln