Canonical Allele Identifier: CA403612391
Gene: C3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6679200A>T , CM000681.2:g.6679200A>T GRCh38
NC_000019.9:g.6679211A>T , CM000681.1:g.6679211A>T GRCh37
NC_000019.8:g.6630211A>T NCBI36
NG_009557.1:g.46452T>A , LRG_27:g.46452T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000695651.1:n.2903T>A
ENST00000695653.1:c.2464T>A ENSP00000512084.1:p.Phe822Ile
ENST00000695654.1:c.3580T>A ENSP00000512085.1:p.Phe1194Ile
ENST00000695689.1:c.526T>A ENSP00000512101.1:n.526T>A
ENST00000695690.1:n.1620T>A
ENST00000695691.1:n.1416T>A
ENST00000245907.11:c.4555T>A MANE Select ENSP00000245907.4:p.Phe1519Ile
ENST00000245907.10:c.4555T>A ENSP00000245907.4:p.Phe1519Ile
ENST00000599668.1:n.175T>A
ENST00000599899.5:n.1514T>A
ENST00000601008.1:c.242-1242T>A ENSP00000471384.1:n.242-1242T>A
ENST00000602229.1:c.2T>A
NM_000064.3:c.4555T>A NP_000055.2:p.Phe1519Ile
NM_000064.4:c.4555T>A MANE Select NP_000055.2:p.Phe1519Ile