Canonical Allele Identifier: CA403621093

Gene: C3

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6686829G>A , CM000681.2:g.6686829G>A	GRCh38
NC_000019.9:g.6686840G>A , CM000681.1:g.6686840G>A	GRCh37
NC_000019.8:g.6637840G>A	NCBI36
NG_009557.1:g.38823C>T , LRG_27:g.38823C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000064.4:c.3563C>T MANE Select	NP_000055.2:p.Thr1188Ile
ENST00000245907.11:c.3563C>T MANE Select	ENSP00000245907.4:p.Thr1188Ile
NM_000064.3:c.3563C>T	NP_000055.2:p.Thr1188Ile
ENST00000245907.10:c.3563C>T	ENSP00000245907.4:p.Thr1188Ile
ENST00000598805.2:n.333C>T
ENST00000601008.1:c.158C>T	ENSP00000471384.1:p.Thr53Ile
ENST00000695651.1:n.1911C>T
ENST00000695652.1:c.3440C>T	ENSP00000512083.1:p.Thr1147Ile
ENST00000695653.1:c.1472C>T	ENSP00000512084.1:p.Thr491Ile
ENST00000695654.1:c.2588C>T	ENSP00000512085.1:p.Thr863Ile
ENST00000695655.1:c.2504C>T	ENSP00000512086.1:n.2504C>T
ENST00000695692.1:n.2927C>T