Canonical Allele Identifier: CA403612725
Gene: C3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6679440G>T , CM000681.2:g.6679440G>T GRCh38
NC_000019.9:g.6679451G>T , CM000681.1:g.6679451G>T GRCh37
NC_000019.8:g.6630451G>T NCBI36
NG_009557.1:g.46212C>A , LRG_27:g.46212C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000695651.1:n.2861C>A
ENST00000695653.1:c.2422C>A ENSP00000512084.1:p.Leu808Ile
ENST00000695654.1:c.3538C>A ENSP00000512085.1:p.Leu1180Ile
ENST00000695689.1:c.484C>A ENSP00000512101.1:n.484C>A
ENST00000695690.1:n.1578C>A
ENST00000695691.1:n.1374C>A
ENST00000245907.11:c.4513C>A MANE Select ENSP00000245907.4:p.Leu1505Ile
ENST00000245907.10:c.4513C>A ENSP00000245907.4:p.Leu1505Ile
ENST00000599668.1:n.108C>A
ENST00000599899.5:n.1472C>A
ENST00000601008.1:c.242-1482C>A ENSP00000471384.1:n.242-1482C>A
NM_000064.3:c.4513C>A NP_000055.2:p.Leu1505Ile
NM_000064.4:c.4513C>A MANE Select NP_000055.2:p.Leu1505Ile