Canonical Allele Identifier: CA2320568394
Gene: C3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6714078C= , CM000681.2:g.6714078C= GRCh38
NC_000019.9:g.6714089C= , CM000681.1:g.6714089C= GRCh37
NC_000019.8:g.6665089C= NCBI36
NG_009557.1:g.11574G= , LRG_27:g.11574G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000695652.1:c.564G= ENSP00000512083.1:p.Leu188=
ENST00000245907.11:c.687G= MANE Select ENSP00000245907.4:p.Leu229=
ENST00000245907.10:c.687G= ENSP00000245907.4:p.Leu229=
ENST00000595577.1:n.191G=
NM_000064.3:c.687G= NP_000055.2:p.Leu229=
NM_000064.4:c.687G= MANE Select NP_000055.2:p.Leu229=