Canonical Allele Identifier: CA9128196
Community Standard Title: NM_000064.4(C3):c.4941G>A (p.Gln1647=)
Gene: C3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6677933C>T , CM000681.2:g.6677933C>T GRCh38
NC_000019.9:g.6677944C>T , CM000681.1:g.6677944C>T GRCh37
NC_000019.8:g.6628944C>T NCBI36
NG_009557.1:g.47719G>A , LRG_27:g.47719G>A

Transcript Alleles

HGVS Amino-acid Change
NM_000064.4:c.4941G>A MANE Select NP_000055.2:p.Gln1647=
ENST00000245907.11:c.4941G>A MANE Select ENSP00000245907.4:p.Gln1647=
NM_000064.3:c.4941G>A NP_000055.2:p.Gln1647=
ENST00000245907.10:c.4941G>A ENSP00000245907.4:p.Gln1647=
ENST00000599668.1:n.561G>A
ENST00000599899.5:n.1900G>A
ENST00000601008.1:c.267G>A ENSP00000471384.1:p.Gln89=
ENST00000601475.1:n.270G>A
ENST00000602229.1:c.516G>A
ENST00000695651.1:n.3289G>A
ENST00000695653.1:c.2850G>A ENSP00000512084.1:p.Gln950=
ENST00000695654.1:c.3966G>A ENSP00000512085.1:p.Gln1322=
ENST00000695689.1:c.912G>A ENSP00000512101.1:n.912G>A
ENST00000695690.1:n.2006G>A
ENST00000695691.1:n.1802G>A