Canonical Allele Identifier: CA403619799
Gene: C3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6686210G>C , CM000681.2:g.6686210G>C GRCh38
NC_000019.9:g.6686221G>C , CM000681.1:g.6686221G>C GRCh37
NC_000019.8:g.6637221G>C NCBI36
NG_009557.1:g.39442C>G , LRG_27:g.39442C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000695651.1:n.2072C>G
ENST00000695652.1:c.3601C>G ENSP00000512083.1:p.Gln1201Glu
ENST00000695653.1:c.1633C>G ENSP00000512084.1:p.Gln545Glu
ENST00000695654.1:c.2749C>G ENSP00000512085.1:p.Gln917Glu
ENST00000695655.1:c.2665C>G ENSP00000512086.1:n.2665C>G
ENST00000695692.1:n.3088C>G
ENST00000245907.11:c.3724C>G MANE Select ENSP00000245907.4:p.Gln1242Glu
ENST00000245907.10:c.3724C>G ENSP00000245907.4:p.Gln1242Glu
ENST00000596238.1:n.167C>G
ENST00000601008.1:c.241+536C>G ENSP00000471384.1:n.241+536C>G
NM_000064.3:c.3724C>G NP_000055.2:p.Gln1242Glu
NM_000064.4:c.3724C>G MANE Select NP_000055.2:p.Gln1242Glu