Canonical Allele Identifier: CA2576591635

Gene: C3

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6679026A>T , CM000681.2:g.6679026A>T	GRCh38
NC_000019.9:g.6679037A>T , CM000681.1:g.6679037A>T	GRCh37
NC_000019.8:g.6630037A>T	NCBI36
NG_009557.1:g.46626T>A , LRG_27:g.46626T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.2978+99T>A
ENST00000695653.1:c.2539+99T>A	ENSP00000512084.1:n.2539+99T>A
ENST00000695654.1:c.3655+99T>A	ENSP00000512085.1:n.3655+99T>A
ENST00000695689.1:c.601+99T>A	ENSP00000512101.1:n.601+99T>A
ENST00000695690.1:n.1695+99T>A
ENST00000695691.1:n.1491+99T>A
ENST00000245907.11:c.4630+99T>A MANE Select	ENSP00000245907.4:n.4630+99T>A
ENST00000245907.10:c.4630+99T>A	ENSP00000245907.4:n.4630+99T>A
ENST00000599668.1:n.250+99T>A
ENST00000599899.5:n.1589+99T>A
ENST00000601008.1:c.242-1068T>A	ENSP00000471384.1:n.242-1068T>A
ENST00000602229.1:c.77+99T>A
NM_000064.3:c.4630+99T>A	NP_000055.2:n.4630+99T>A
NM_000064.4:c.4630+99T>A MANE Select	NP_000055.2:n.4630+99T>A