Canonical Allele Identifier: CA2320567914
Gene: C3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6713412T= , CM000681.2:g.6713412T= GRCh38
NC_000019.9:g.6713423T= , CM000681.1:g.6713423T= GRCh37
NC_000019.8:g.6664423T= NCBI36
NG_009557.1:g.12240A= , LRG_27:g.12240A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000695652.1:c.748A= ENSP00000512083.1:p.Ile250=
ENST00000695692.1:n.195A=
ENST00000245907.11:c.871A= MANE Select ENSP00000245907.4:p.Ile291=
ENST00000245907.10:c.871A= ENSP00000245907.4:p.Ile291=
ENST00000595577.1:n.375A=
ENST00000597442.5:n.121A=
NM_000064.3:c.871A= NP_000055.2:p.Ile291=
NM_000064.4:c.871A= MANE Select NP_000055.2:p.Ile291=