Canonical Allele Identifier: CA2320567930
Gene: C3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6713445G= , CM000681.2:g.6713445G= GRCh38
NC_000019.9:g.6713456G= , CM000681.1:g.6713456G= GRCh37
NC_000019.8:g.6664456G= NCBI36
NG_009557.1:g.12207C= , LRG_27:g.12207C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000695652.1:c.715C= ENSP00000512083.1:p.Gln239=
ENST00000695692.1:n.162C=
ENST00000245907.11:c.838C= MANE Select ENSP00000245907.4:p.Gln280=
ENST00000245907.10:c.838C= ENSP00000245907.4:p.Gln280=
ENST00000595577.1:n.342C=
ENST00000597442.5:n.88C=
NM_000064.3:c.838C= NP_000055.2:p.Gln280=
NM_000064.4:c.838C= MANE Select NP_000055.2:p.Gln280=