Canonical Allele Identifier: CA2320567819
Gene: C3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6713198A= , CM000681.2:g.6713198A= GRCh38
NC_000019.9:g.6713209A= , CM000681.1:g.6713209A= GRCh37
NC_000019.8:g.6664209A= NCBI36
NG_009557.1:g.12454T= , LRG_27:g.12454T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000695652.1:c.871T= ENSP00000512083.1:p.Leu291=
ENST00000695654.1:c.118T= ENSP00000512085.1:p.Leu40=
ENST00000695692.1:n.318T=
ENST00000245907.11:c.994T= MANE Select ENSP00000245907.4:p.Leu332=
ENST00000245907.10:c.994T= ENSP00000245907.4:p.Leu332=
ENST00000594270.5:n.118T=
ENST00000595577.1:n.498T=
ENST00000597442.5:n.244T=
NM_000064.3:c.994T= NP_000055.2:p.Leu332=
NM_000064.4:c.994T= MANE Select NP_000055.2:p.Leu332=