Canonical Allele Identifier: CA993063020

Gene: C3

Linked Data

• dbSNP Id: rs1917789138
• gnomAD v3: 19-6678947-C-A
• gnomAD v4: 19-6678947-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6678947C>A , CM000681.2:g.6678947C>A	GRCh38
NC_000019.9:g.6678958C>A , CM000681.1:g.6678958C>A	GRCh37
NC_000019.8:g.6629958C>A	NCBI36
NG_009557.1:g.46705G>T , LRG_27:g.46705G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.2978+178G>T
ENST00000695653.1:c.2539+178G>T	ENSP00000512084.1:n.2539+178G>T
ENST00000695654.1:c.3655+178G>T	ENSP00000512085.1:n.3655+178G>T
ENST00000695689.1:c.601+178G>T	ENSP00000512101.1:n.601+178G>T
ENST00000695690.1:n.1695+178G>T
ENST00000695691.1:n.1491+178G>T
ENST00000245907.11:c.4630+178G>T MANE Select	ENSP00000245907.4:n.4630+178G>T
ENST00000245907.10:c.4630+178G>T	ENSP00000245907.4:n.4630+178G>T
ENST00000599668.1:n.250+178G>T
ENST00000599899.5:n.1589+178G>T
ENST00000601008.1:c.242-989G>T	ENSP00000471384.1:n.242-989G>T
ENST00000602229.1:c.77+178G>T
NM_000064.3:c.4630+178G>T	NP_000055.2:n.4630+178G>T
NM_000064.4:c.4630+178G>T MANE Select	NP_000055.2:n.4630+178G>T