Canonical Allele Identifier: CA9128264

Gene: C3

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6678243G>A , CM000681.2:g.6678243G>A	GRCh38
NC_000019.9:g.6678254G>A , CM000681.1:g.6678254G>A	GRCh37
NC_000019.8:g.6629254G>A	NCBI36
NG_009557.1:g.47409C>T , LRG_27:g.47409C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000064.4:c.4759C>T MANE Select	NP_000055.2:p.Pro1587Ser
ENST00000245907.11:c.4759C>T MANE Select	ENSP00000245907.4:p.Pro1587Ser
NM_000064.3:c.4759C>T	NP_000055.2:p.Pro1587Ser
ENST00000245907.10:c.4759C>T	ENSP00000245907.4:p.Pro1587Ser
ENST00000599668.1:n.379C>T
ENST00000599899.5:n.1718C>T
ENST00000601008.1:c.242-285C>T	ENSP00000471384.1:n.242-285C>T
ENST00000601475.1:n.88C>T
ENST00000602229.1:c.206C>T
ENST00000695651.1:n.3107C>T
ENST00000695653.1:c.2668C>T	ENSP00000512084.1:p.Pro890Ser
ENST00000695654.1:c.3784C>T	ENSP00000512085.1:p.Pro1262Ser
ENST00000695689.1:c.730C>T	ENSP00000512101.1:n.730C>T
ENST00000695690.1:n.1824C>T
ENST00000695691.1:n.1620C>T