Canonical Allele Identifier: CA2320553484
Gene: C3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6686246C= , CM000681.2:g.6686246C= GRCh38
NC_000019.9:g.6686257C= , CM000681.1:g.6686257C= GRCh37
NC_000019.8:g.6637257C= NCBI36
NG_009557.1:g.39406G= , LRG_27:g.39406G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000695651.1:n.2036G=
ENST00000695652.1:c.3565G= ENSP00000512083.1:p.Val1189=
ENST00000695653.1:c.1597G= ENSP00000512084.1:p.Val533=
ENST00000695654.1:c.2713G= ENSP00000512085.1:p.Val905=
ENST00000695655.1:c.2629G= ENSP00000512086.1:n.2629G=
ENST00000695692.1:n.3052G=
ENST00000245907.11:c.3688G= MANE Select ENSP00000245907.4:p.Val1230=
ENST00000245907.10:c.3688G= ENSP00000245907.4:p.Val1230=
ENST00000596238.1:n.131G=
ENST00000601008.1:c.241+500G= ENSP00000471384.1:n.241+500G=
NM_000064.3:c.3688G= NP_000055.2:p.Val1230=
NM_000064.4:c.3688G= MANE Select NP_000055.2:p.Val1230=