Canonical Allele Identifier: CA2320551564
Gene: C3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6682030G= , CM000681.2:g.6682030G= GRCh38
NC_000019.9:g.6682041G= , CM000681.1:g.6682041G= GRCh37
NC_000019.8:g.6633041G= NCBI36
NG_009557.1:g.43622C= , LRG_27:g.43622C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000695651.1:n.2609C=
ENST00000695653.1:c.2170C= ENSP00000512084.1:p.Leu724=
ENST00000695654.1:c.3286C= ENSP00000512085.1:p.Leu1096=
ENST00000695689.1:c.232C= ENSP00000512101.1:n.232C=
ENST00000695690.1:n.452C=
ENST00000695691.1:n.452C=
ENST00000245907.11:c.4261C= MANE Select ENSP00000245907.4:p.Leu1421=
ENST00000245907.10:c.4261C= ENSP00000245907.4:p.Leu1421=
ENST00000596548.1:c.382C= ENSP00000469744.1:p.Leu128=
ENST00000599899.5:n.1220C=
ENST00000601008.1:c.242-4072C= ENSP00000471384.1:n.242-4072C=
NM_000064.3:c.4261C= NP_000055.2:p.Leu1421=
NM_000064.4:c.4261C= MANE Select NP_000055.2:p.Leu1421=