Canonical Allele Identifier: CA403612781
Gene: C3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6679452T>G , CM000681.2:g.6679452T>G GRCh38
NC_000019.9:g.6679463T>G , CM000681.1:g.6679463T>G GRCh37
NC_000019.8:g.6630463T>G NCBI36
NG_009557.1:g.46200A>C , LRG_27:g.46200A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000695651.1:n.2849A>C
ENST00000695653.1:c.2410A>C ENSP00000512084.1:p.Lys804Gln
ENST00000695654.1:c.3526A>C ENSP00000512085.1:p.Lys1176Gln
ENST00000695689.1:c.472A>C ENSP00000512101.1:n.472A>C
ENST00000695690.1:n.1566A>C
ENST00000695691.1:n.1362A>C
ENST00000245907.11:c.4501A>C MANE Select ENSP00000245907.4:p.Lys1501Gln
ENST00000245907.10:c.4501A>C ENSP00000245907.4:p.Lys1501Gln
ENST00000599668.1:n.96A>C
ENST00000599899.5:n.1460A>C
ENST00000601008.1:c.242-1494A>C ENSP00000471384.1:n.242-1494A>C
NM_000064.3:c.4501A>C NP_000055.2:p.Lys1501Gln
NM_000064.4:c.4501A>C MANE Select NP_000055.2:p.Lys1501Gln