Canonical Allele Identifier: CA9128504

Gene: C3

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6684412G>T , CM000681.2:g.6684412G>T	GRCh38
NC_000019.9:g.6684423G>T , CM000681.1:g.6684423G>T	GRCh37
NC_000019.8:g.6635423G>T	NCBI36
NG_009557.1:g.41240C>A , LRG_27:g.41240C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000064.4:c.4148C>A MANE Select	NP_000055.2:p.Thr1383Asn
ENST00000245907.11:c.4148C>A MANE Select	ENSP00000245907.4:p.Thr1383Asn
NM_000064.3:c.4148C>A	NP_000055.2:p.Thr1383Asn
ENST00000245907.10:c.4148C>A	ENSP00000245907.4:p.Thr1383Asn
ENST00000596179.1:n.101C>A
ENST00000596548.1:c.269C>A	ENSP00000469744.1:p.Thr90Asn
ENST00000601008.1:c.241+2334C>A	ENSP00000471384.1:n.241+2334C>A
ENST00000695651.1:n.2496C>A
ENST00000695653.1:c.2057C>A	ENSP00000512084.1:p.Thr686Asn
ENST00000695654.1:c.3173C>A	ENSP00000512085.1:p.Thr1058Asn
ENST00000695689.1:c.59C>A	ENSP00000512101.1:p.Thr20Asn
ENST00000695690.1:n.339C>A
ENST00000695691.1:n.339C>A