Canonical Allele Identifier: CA304772186

Gene: C3

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6680261G>C , CM000681.2:g.6680261G>C	GRCh38
NC_000019.9:g.6680272G>C , CM000681.1:g.6680272G>C	GRCh37
NC_000019.8:g.6631272G>C	NCBI36
NG_009557.1:g.45391C>G , LRG_27:g.45391C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000064.4:c.4353C>G MANE Select	NP_000055.2:p.Val1451=
ENST00000245907.11:c.4353C>G MANE Select	ENSP00000245907.4:p.Val1451=
NM_000064.3:c.4353C>G	NP_000055.2:p.Val1451=
ENST00000245907.10:c.4353C>G	ENSP00000245907.4:p.Val1451=
ENST00000596548.1:c.474C>G	ENSP00000469744.1:p.Val158=
ENST00000599899.5:n.1312C>G
ENST00000601008.1:c.242-2303C>G	ENSP00000471384.1:n.242-2303C>G
ENST00000695651.1:n.2701C>G
ENST00000695653.1:c.2262C>G	ENSP00000512084.1:p.Val754=
ENST00000695654.1:c.3378C>G	ENSP00000512085.1:p.Val1126=
ENST00000695689.1:c.324C>G	ENSP00000512101.1:n.324C>G
ENST00000695690.1:n.1418C>G
ENST00000695691.1:n.1214C>G