Canonical Allele Identifier: CA9128916

Gene: C3

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6696422G>A , CM000681.2:g.6696422G>A	GRCh38
NC_000019.9:g.6696433G>A , CM000681.1:g.6696433G>A	GRCh37
NC_000019.8:g.6647433G>A	NCBI36
NG_009557.1:g.29230C>T , LRG_27:g.29230C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000064.4:c.2907C>T MANE Select	NP_000055.2:p.Asp969=
ENST00000245907.11:c.2907C>T MANE Select	ENSP00000245907.4:p.Asp969=
NM_000064.3:c.2907C>T	NP_000055.2:p.Asp969=
ENST00000245907.10:c.2907C>T	ENSP00000245907.4:p.Asp969=
ENST00000695651.1:n.1255C>T
ENST00000695652.1:c.2784C>T	ENSP00000512083.1:p.Asp928=
ENST00000695653.1:c.816C>T	ENSP00000512084.1:p.Asp272=
ENST00000695654.1:c.2031C>T	ENSP00000512085.1:p.Asp677=
ENST00000695655.1:c.1848C>T	ENSP00000512086.1:n.1848C>T
ENST00000695692.1:n.2271C>T