Canonical Allele Identifier: CA403614408
Gene: C3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6681942T>G , CM000681.2:g.6681942T>G GRCh38
NC_000019.9:g.6681953T>G , CM000681.1:g.6681953T>G GRCh37
NC_000019.8:g.6632953T>G NCBI36
NG_009557.1:g.43710A>C , LRG_27:g.43710A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000695651.1:n.2697A>C
ENST00000695653.1:c.2258A>C ENSP00000512084.1:p.Lys753Thr
ENST00000695654.1:c.3374A>C ENSP00000512085.1:p.Lys1125Thr
ENST00000695689.1:c.320A>C ENSP00000512101.1:n.320A>C
ENST00000695690.1:n.540A>C
ENST00000695691.1:n.540A>C
ENST00000245907.11:c.4349A>C MANE Select ENSP00000245907.4:p.Lys1450Thr
ENST00000245907.10:c.4349A>C ENSP00000245907.4:p.Lys1450Thr
ENST00000596548.1:c.470A>C ENSP00000469744.1:p.Lys157Thr
ENST00000599899.5:n.1308A>C
ENST00000601008.1:c.242-3984A>C ENSP00000471384.1:n.242-3984A>C
NM_000064.3:c.4349A>C NP_000055.2:p.Lys1450Thr
NM_000064.4:c.4349A>C MANE Select NP_000055.2:p.Lys1450Thr