Canonical Allele Identifier: CA9128556

Gene: C3

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6684811T>C , CM000681.2:g.6684811T>C	GRCh38
NC_000019.9:g.6684822T>C , CM000681.1:g.6684822T>C	GRCh37
NC_000019.8:g.6635822T>C	NCBI36
NG_009557.1:g.40841A>G , LRG_27:g.40841A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000064.4:c.3993A>G MANE Select	NP_000055.2:p.Thr1331=
ENST00000245907.11:c.3993A>G MANE Select	ENSP00000245907.4:p.Thr1331=
NM_000064.3:c.3993A>G	NP_000055.2:p.Thr1331=
ENST00000245907.10:c.3993A>G	ENSP00000245907.4:p.Thr1331=
ENST00000596238.1:n.436A>G
ENST00000596548.1:c.75A>G	ENSP00000469744.1:p.Thr25=
ENST00000601008.1:c.241+1935A>G	ENSP00000471384.1:n.241+1935A>G
ENST00000695651.1:n.2341A>G
ENST00000695653.1:c.1902A>G	ENSP00000512084.1:p.Thr634=
ENST00000695654.1:c.3018A>G	ENSP00000512085.1:p.Thr1006=
ENST00000695690.1:n.184A>G
ENST00000695691.1:n.184A>G