Canonical Allele Identifier: CA2320559036
Gene: C3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6697353C= , CM000681.2:g.6697353C= GRCh38
NC_000019.9:g.6697364C= , CM000681.1:g.6697364C= GRCh37
NC_000019.8:g.6648364C= NCBI36
NG_009557.1:g.28299G= , LRG_27:g.28299G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000695651.1:n.1135G=
ENST00000695652.1:c.2664G= ENSP00000512083.1:p.Leu888=
ENST00000695653.1:c.696G= ENSP00000512084.1:p.Leu232=
ENST00000695654.1:c.1911G= ENSP00000512085.1:p.Leu637=
ENST00000695655.1:c.1728G= ENSP00000512086.1:n.1728G=
ENST00000695692.1:n.2151G=
ENST00000245907.11:c.2787G= MANE Select ENSP00000245907.4:p.Leu929=
ENST00000245907.10:c.2787G= ENSP00000245907.4:p.Leu929=
ENST00000594005.1:n.363G=
NM_000064.3:c.2787G= NP_000055.2:p.Leu929=
NM_000064.4:c.2787G= MANE Select NP_000055.2:p.Leu929=