Canonical Allele Identifier: CA9128529

Gene: C3

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6684585G>C , CM000681.2:g.6684585G>C	GRCh38
NC_000019.9:g.6684596G>C , CM000681.1:g.6684596G>C	GRCh37
NC_000019.8:g.6635596G>C	NCBI36
NG_009557.1:g.41067C>G , LRG_27:g.41067C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000064.4:c.4095C>G MANE Select	NP_000055.2:p.Val1365=
ENST00000245907.11:c.4095C>G MANE Select	ENSP00000245907.4:p.Val1365=
NM_000064.3:c.4095C>G	NP_000055.2:p.Val1365=
ENST00000245907.10:c.4095C>G	ENSP00000245907.4:p.Val1365=
ENST00000596179.1:n.48C>G
ENST00000596238.1:n.538C>G
ENST00000596548.1:c.177C>G	ENSP00000469744.1:p.Val59=
ENST00000601008.1:c.241+2161C>G	ENSP00000471384.1:n.241+2161C>G
ENST00000695651.1:n.2443C>G
ENST00000695653.1:c.2004C>G	ENSP00000512084.1:p.Val668=
ENST00000695654.1:c.3120C>G	ENSP00000512085.1:p.Val1040=
ENST00000695689.1:c.6C>G	ENSP00000512101.1:p.Val2=
ENST00000695690.1:n.286C>G
ENST00000695691.1:n.286C>G