Canonical Allele Identifier: CA9129130

Gene: C3

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6702535G>A , CM000681.2:g.6702535G>A	GRCh38
NC_000019.9:g.6702546G>A , CM000681.1:g.6702546G>A	GRCh37
NC_000019.8:g.6653546G>A	NCBI36
NG_009557.1:g.23117C>T , LRG_27:g.23117C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000064.4:c.2290C>T MANE Select	NP_000055.2:p.Arg764Ter
ENST00000245907.11:c.2290C>T MANE Select	ENSP00000245907.4:p.Arg764Ter
NM_000064.3:c.2290C>T	NP_000055.2:p.Arg764Ter
ENST00000245907.10:c.2290C>T	ENSP00000245907.4:p.Arg764Ter
ENST00000602053.1:n.338C>T
ENST00000695651.1:n.638C>T
ENST00000695652.1:c.2167C>T	ENSP00000512083.1:p.Arg723Ter
ENST00000695653.1:c.199C>T	ENSP00000512084.1:p.Arg67Ter
ENST00000695654.1:c.1414C>T	ENSP00000512085.1:p.Arg472Ter
ENST00000695655.1:c.1231C>T	ENSP00000512086.1:n.1231C>T
ENST00000695692.1:n.1654C>T