Canonical Allele Identifier: CA2320551546
Community Standard Title: NM_000064.4(C3):c.4311C= (p.Ala1437=)
Gene: C3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6681980G= , CM000681.2:g.6681980G= GRCh38
NC_000019.9:g.6681991G= , CM000681.1:g.6681991G= GRCh37
NC_000019.8:g.6632991G= NCBI36
NG_009557.1:g.43672C= , LRG_27:g.43672C=

Transcript Alleles

HGVS Amino-acid Change
NM_000064.4:c.4311C= MANE Select NP_000055.2:p.Ala1437=
ENST00000245907.11:c.4311C= MANE Select ENSP00000245907.4:p.Ala1437=
NM_000064.3:c.4311C= NP_000055.2:p.Ala1437=
ENST00000245907.10:c.4311C= ENSP00000245907.4:p.Ala1437=
ENST00000596548.1:c.432C= ENSP00000469744.1:p.Ala144=
ENST00000599899.5:n.1270C=
ENST00000601008.1:c.242-4022C= ENSP00000471384.1:n.242-4022C=
ENST00000695651.1:n.2659C=
ENST00000695653.1:c.2220C= ENSP00000512084.1:p.Ala740=
ENST00000695654.1:c.3336C= ENSP00000512085.1:p.Ala1112=
ENST00000695689.1:c.282C= ENSP00000512101.1:n.282C=
ENST00000695690.1:n.502C=
ENST00000695691.1:n.502C=