Canonical Allele Identifier: CA403624011
Community Standard Title: NM_000064.4(C3):c.3470T>C (p.Ile1157Thr)
Gene: C3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6690648A>G , CM000681.2:g.6690648A>G GRCh38
NC_000019.9:g.6690659A>G , CM000681.1:g.6690659A>G GRCh37
NC_000019.8:g.6641659A>G NCBI36
NG_009557.1:g.35004T>C , LRG_27:g.35004T>C

Transcript Alleles

HGVS Amino-acid Change
NM_000064.4:c.3470T>C MANE Select NP_000055.2:p.Ile1157Thr
ENST00000245907.11:c.3470T>C MANE Select ENSP00000245907.4:p.Ile1157Thr
NM_000064.3:c.3470T>C NP_000055.2:p.Ile1157Thr
ENST00000245907.10:c.3470T>C ENSP00000245907.4:p.Ile1157Thr
ENST00000598805.2:n.240T>C
ENST00000601008.1:c.65T>C ENSP00000471384.1:p.Ile22Thr
ENST00000695651.1:n.1818T>C
ENST00000695652.1:c.3347T>C ENSP00000512083.1:p.Ile1116Thr
ENST00000695653.1:c.1379T>C ENSP00000512084.1:p.Ile460Thr
ENST00000695654.1:c.2514+2276T>C ENSP00000512085.1:n.2514+2276T>C
ENST00000695655.1:c.2411T>C ENSP00000512086.1:n.2411T>C
ENST00000695692.1:n.2834T>C