Canonical Allele Identifier: CA2320567920
Gene: C3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6713420A= , CM000681.2:g.6713420A= GRCh38
NC_000019.9:g.6713431A= , CM000681.1:g.6713431A= GRCh37
NC_000019.8:g.6664431A= NCBI36
NG_009557.1:g.12232T= , LRG_27:g.12232T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000695652.1:c.740T= ENSP00000512083.1:p.Leu247=
ENST00000695692.1:n.187T=
ENST00000245907.11:c.863T= MANE Select ENSP00000245907.4:p.Leu288=
ENST00000245907.10:c.863T= ENSP00000245907.4:p.Leu288=
ENST00000595577.1:n.367T=
ENST00000597442.5:n.113T=
NM_000064.3:c.863T= NP_000055.2:p.Leu288=
NM_000064.4:c.863T= MANE Select NP_000055.2:p.Leu288=