Canonical Allele Identifier: CA9128600

Gene: C3

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6685049C>T , CM000681.2:g.6685049C>T	GRCh38
NC_000019.9:g.6685060C>T , CM000681.1:g.6685060C>T	GRCh37
NC_000019.8:g.6636060C>T	NCBI36
NG_009557.1:g.40603G>A , LRG_27:g.40603G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000064.4:c.3908G>A MANE Select	NP_000055.2:p.Arg1303His
ENST00000245907.11:c.3908G>A MANE Select	ENSP00000245907.4:p.Arg1303His
NM_000064.3:c.3908G>A	NP_000055.2:p.Arg1303His
ENST00000245907.10:c.3908G>A	ENSP00000245907.4:p.Arg1303His
ENST00000596238.1:n.351G>A
ENST00000601008.1:c.241+1697G>A	ENSP00000471384.1:n.241+1697G>A
ENST00000695651.1:n.2256G>A
ENST00000695653.1:c.1817G>A	ENSP00000512084.1:p.Arg606His
ENST00000695654.1:c.2933G>A	ENSP00000512085.1:p.Arg978His
ENST00000695690.1:n.99G>A
ENST00000695691.1:n.99G>A