Canonical Allele Identifier: CA2320567919
Gene: C3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6713419G= , CM000681.2:g.6713419G= GRCh38
NC_000019.9:g.6713430G= , CM000681.1:g.6713430G= GRCh37
NC_000019.8:g.6664430G= NCBI36
NG_009557.1:g.12233C= , LRG_27:g.12233C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000695652.1:c.741C= ENSP00000512083.1:p.Leu247=
ENST00000695692.1:n.188C=
ENST00000245907.11:c.864C= MANE Select ENSP00000245907.4:p.Leu288=
ENST00000245907.10:c.864C= ENSP00000245907.4:p.Leu288=
ENST00000595577.1:n.368C=
ENST00000597442.5:n.114C=
NM_000064.3:c.864C= NP_000055.2:p.Leu288=
NM_000064.4:c.864C= MANE Select NP_000055.2:p.Leu288=