Canonical Allele Identifier: CA2320550613

Gene: C3

Linked Data

• dbSNP Id: rs967220725
• gnomAD v3: 19-6679853-C-T
• gnomAD v4: 19-6679853-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6679853C>T , CM000681.2:g.6679853C>T	GRCh38
NC_000019.9:g.6679864C>T , CM000681.1:g.6679864C>T	GRCh37
NC_000019.8:g.6630864C>T	NCBI36
NG_009557.1:g.45799G>A , LRG_27:g.45799G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.2804+305G>A
ENST00000695653.1:c.2365+305G>A	ENSP00000512084.1:n.2365+305G>A
ENST00000695654.1:c.3481+305G>A	ENSP00000512085.1:n.3481+305G>A
ENST00000695689.1:c.427+305G>A	ENSP00000512101.1:n.427+305G>A
ENST00000695690.1:n.1521+305G>A
ENST00000695691.1:n.1317+305G>A
ENST00000245907.11:c.4456+305G>A MANE Select	ENSP00000245907.4:n.4456+305G>A
ENST00000245907.10:c.4456+305G>A	ENSP00000245907.4:n.4456+305G>A
ENST00000599668.1:n.51+248G>A
ENST00000599899.5:n.1415+305G>A
ENST00000601008.1:c.242-1895G>A	ENSP00000471384.1:n.242-1895G>A
NM_000064.3:c.4456+305G>A	NP_000055.2:n.4456+305G>A
NM_000064.4:c.4456+305G>A MANE Select	NP_000055.2:n.4456+305G>A