Canonical Allele Identifier: CA9128528

Gene: C3

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6684580A>G , CM000681.2:g.6684580A>G	GRCh38
NC_000019.9:g.6684591A>G , CM000681.1:g.6684591A>G	GRCh37
NC_000019.8:g.6635591A>G	NCBI36
NG_009557.1:g.41072T>C , LRG_27:g.41072T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000064.4:c.4100T>C MANE Select	NP_000055.2:p.Ile1367Thr
ENST00000245907.11:c.4100T>C MANE Select	ENSP00000245907.4:p.Ile1367Thr
NM_000064.3:c.4100T>C	NP_000055.2:p.Ile1367Thr
ENST00000245907.10:c.4100T>C	ENSP00000245907.4:p.Ile1367Thr
ENST00000596179.1:n.53T>C
ENST00000596238.1:n.543T>C
ENST00000596548.1:c.182T>C	ENSP00000469744.1:p.Ile61Thr
ENST00000601008.1:c.241+2166T>C	ENSP00000471384.1:n.241+2166T>C
ENST00000695651.1:n.2448T>C
ENST00000695653.1:c.2009T>C	ENSP00000512084.1:p.Ile670Thr
ENST00000695654.1:c.3125T>C	ENSP00000512085.1:p.Ile1042Thr
ENST00000695689.1:c.11T>C	ENSP00000512101.1:p.Ile4Thr
ENST00000695690.1:n.291T>C
ENST00000695691.1:n.291T>C