Canonical Allele Identifier: CA403632579
Gene: C3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6697364T>A , CM000681.2:g.6697364T>A GRCh38
NC_000019.9:g.6697375T>A , CM000681.1:g.6697375T>A GRCh37
NC_000019.8:g.6648375T>A NCBI36
NG_009557.1:g.28288A>T , LRG_27:g.28288A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000695651.1:n.1124A>T
ENST00000695652.1:c.2653A>T ENSP00000512083.1:p.Arg885Trp
ENST00000695653.1:c.685A>T ENSP00000512084.1:p.Arg229Trp
ENST00000695654.1:c.1900A>T ENSP00000512085.1:p.Arg634Trp
ENST00000695655.1:c.1717A>T ENSP00000512086.1:n.1717A>T
ENST00000695692.1:n.2140A>T
ENST00000245907.11:c.2776A>T MANE Select ENSP00000245907.4:p.Arg926Trp
ENST00000245907.10:c.2776A>T ENSP00000245907.4:p.Arg926Trp
ENST00000594005.1:n.352A>T
NM_000064.3:c.2776A>T NP_000055.2:p.Arg926Trp
NM_000064.4:c.2776A>T MANE Select NP_000055.2:p.Arg926Trp