Canonical Allele Identifier: CA2320567849
Gene: C3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6713268C= , CM000681.2:g.6713268C= GRCh38
NC_000019.9:g.6713279C= , CM000681.1:g.6713279C= GRCh37
NC_000019.8:g.6664279C= NCBI36
NG_009557.1:g.12384G= , LRG_27:g.12384G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000695652.1:c.801G= ENSP00000512083.1:p.Leu267=
ENST00000695654.1:c.48G= ENSP00000512085.1:p.Leu16=
ENST00000695692.1:n.248G=
ENST00000245907.11:c.924G= MANE Select ENSP00000245907.4:p.Leu308=
ENST00000245907.10:c.924G= ENSP00000245907.4:p.Leu308=
ENST00000594270.5:n.48G=
ENST00000595577.1:n.428G=
ENST00000597442.5:n.174G=
NM_000064.3:c.924G= NP_000055.2:p.Leu308=
NM_000064.4:c.924G= MANE Select NP_000055.2:p.Leu308=