Canonical Allele Identifier: CA403621228
Community Standard Title: NM_000064.4(C3):c.3551A>G (p.Gln1184Arg)
Gene: C3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6686841T>C , CM000681.2:g.6686841T>C GRCh38
NC_000019.9:g.6686852T>C , CM000681.1:g.6686852T>C GRCh37
NC_000019.8:g.6637852T>C NCBI36
NG_009557.1:g.38811A>G , LRG_27:g.38811A>G

Transcript Alleles

HGVS Amino-acid Change
NM_000064.4:c.3551A>G MANE Select NP_000055.2:p.Gln1184Arg
ENST00000245907.11:c.3551A>G MANE Select ENSP00000245907.4:p.Gln1184Arg
NM_000064.3:c.3551A>G NP_000055.2:p.Gln1184Arg
ENST00000245907.10:c.3551A>G ENSP00000245907.4:p.Gln1184Arg
ENST00000598805.2:n.321A>G
ENST00000601008.1:c.146A>G ENSP00000471384.1:p.Gln49Arg
ENST00000695651.1:n.1899A>G
ENST00000695652.1:c.3428A>G ENSP00000512083.1:p.Gln1143Arg
ENST00000695653.1:c.1460A>G ENSP00000512084.1:p.Gln487Arg
ENST00000695654.1:c.2576A>G ENSP00000512085.1:p.Gln859Arg
ENST00000695655.1:c.2492A>G ENSP00000512086.1:n.2492A>G
ENST00000695692.1:n.2915A>G