Canonical Allele Identifier: CA9128952

Gene: C3

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6696595C>T , CM000681.2:g.6696595C>T	GRCh38
NC_000019.9:g.6696606C>T , CM000681.1:g.6696606C>T	GRCh37
NC_000019.8:g.6647606C>T	NCBI36
NG_009557.1:g.29057G>A , LRG_27:g.29057G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000064.4:c.2861G>A MANE Select	NP_000055.2:p.Arg954His
ENST00000245907.11:c.2861G>A MANE Select	ENSP00000245907.4:p.Arg954His
NM_000064.3:c.2861G>A	NP_000055.2:p.Arg954His
ENST00000245907.10:c.2861G>A	ENSP00000245907.4:p.Arg954His
ENST00000695651.1:n.1209G>A
ENST00000695652.1:c.2738G>A	ENSP00000512083.1:p.Arg913His
ENST00000695653.1:c.770G>A	ENSP00000512084.1:p.Arg257His
ENST00000695654.1:c.1985G>A	ENSP00000512085.1:p.Arg662His
ENST00000695655.1:c.1802G>A	ENSP00000512086.1:n.1802G>A
ENST00000695692.1:n.2225G>A