Canonical Allele Identifier: CA2320551537
Gene: C3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6681959G= , CM000681.2:g.6681959G= GRCh38
NC_000019.9:g.6681970G= , CM000681.1:g.6681970G= GRCh37
NC_000019.8:g.6632970G= NCBI36
NG_009557.1:g.43693C= , LRG_27:g.43693C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000695651.1:n.2680C=
ENST00000695653.1:c.2241C= ENSP00000512084.1:p.Leu747=
ENST00000695654.1:c.3357C= ENSP00000512085.1:p.Leu1119=
ENST00000695689.1:c.303C= ENSP00000512101.1:n.303C=
ENST00000695690.1:n.523C=
ENST00000695691.1:n.523C=
ENST00000245907.11:c.4332C= MANE Select ENSP00000245907.4:p.Leu1444=
ENST00000245907.10:c.4332C= ENSP00000245907.4:p.Leu1444=
ENST00000596548.1:c.453C= ENSP00000469744.1:p.Leu151=
ENST00000599899.5:n.1291C=
ENST00000601008.1:c.242-4001C= ENSP00000471384.1:n.242-4001C=
NM_000064.3:c.4332C= NP_000055.2:p.Leu1444=
NM_000064.4:c.4332C= MANE Select NP_000055.2:p.Leu1444=