Canonical Allele Identifier: CA403612711
Gene: C3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6679436C>T , CM000681.2:g.6679436C>T GRCh38
NC_000019.9:g.6679447C>T , CM000681.1:g.6679447C>T GRCh37
NC_000019.8:g.6630447C>T NCBI36
NG_009557.1:g.46216G>A , LRG_27:g.46216G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000695651.1:n.2865G>A
ENST00000695653.1:c.2426G>A ENSP00000512084.1:p.Cys809Tyr
ENST00000695654.1:c.3542G>A ENSP00000512085.1:p.Cys1181Tyr
ENST00000695689.1:c.488G>A ENSP00000512101.1:n.488G>A
ENST00000695690.1:n.1582G>A
ENST00000695691.1:n.1378G>A
ENST00000245907.11:c.4517G>A MANE Select ENSP00000245907.4:p.Cys1506Tyr
ENST00000245907.10:c.4517G>A ENSP00000245907.4:p.Cys1506Tyr
ENST00000599668.1:n.112G>A
ENST00000599899.5:n.1476G>A
ENST00000601008.1:c.242-1478G>A ENSP00000471384.1:n.242-1478G>A
NM_000064.3:c.4517G>A NP_000055.2:p.Cys1506Tyr
NM_000064.4:c.4517G>A MANE Select NP_000055.2:p.Cys1506Tyr