Canonical Allele Identifier: CA403614930
Gene: C3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6682005A>G , CM000681.2:g.6682005A>G GRCh38
NC_000019.9:g.6682016A>G , CM000681.1:g.6682016A>G GRCh37
NC_000019.8:g.6633016A>G NCBI36
NG_009557.1:g.43647T>C , LRG_27:g.43647T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000695651.1:n.2634T>C
ENST00000695653.1:c.2195T>C ENSP00000512084.1:p.Ile732Thr
ENST00000695654.1:c.3311T>C ENSP00000512085.1:p.Ile1104Thr
ENST00000695689.1:c.257T>C ENSP00000512101.1:n.257T>C
ENST00000695690.1:n.477T>C
ENST00000695691.1:n.477T>C
ENST00000245907.11:c.4286T>C MANE Select ENSP00000245907.4:p.Ile1429Thr
ENST00000245907.10:c.4286T>C ENSP00000245907.4:p.Ile1429Thr
ENST00000596548.1:c.407T>C ENSP00000469744.1:p.Ile136Thr
ENST00000599899.5:n.1245T>C
ENST00000601008.1:c.242-4047T>C ENSP00000471384.1:n.242-4047T>C
NM_000064.3:c.4286T>C NP_000055.2:p.Ile1429Thr
NM_000064.4:c.4286T>C MANE Select NP_000055.2:p.Ile1429Thr