Canonical Allele Identifier: CA403625998
Community Standard Title: NM_000064.4(C3):c.3303C>G (p.Cys1101Trp)
Gene: C3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6693011G>C , CM000681.2:g.6693011G>C GRCh38
NC_000019.9:g.6693022G>C , CM000681.1:g.6693022G>C GRCh37
NC_000019.8:g.6644022G>C NCBI36
NG_009557.1:g.32641C>G , LRG_27:g.32641C>G

Transcript Alleles

HGVS Amino-acid Change
NM_000064.4:c.3303C>G MANE Select NP_000055.2:p.Cys1101Trp
ENST00000245907.11:c.3303C>G MANE Select ENSP00000245907.4:p.Cys1101Trp
NM_000064.3:c.3303C>G NP_000055.2:p.Cys1101Trp
ENST00000245907.10:c.3303C>G ENSP00000245907.4:p.Cys1101Trp
ENST00000598805.2:n.73C>G
ENST00000695651.1:n.1651C>G
ENST00000695652.1:c.3180C>G ENSP00000512083.1:p.Cys1060Trp
ENST00000695653.1:c.1212C>G ENSP00000512084.1:p.Cys404Trp
ENST00000695654.1:c.2427C>G ENSP00000512085.1:p.Cys809Trp
ENST00000695655.1:c.2244C>G ENSP00000512086.1:n.2244C>G
ENST00000695692.1:n.2667C>G