Canonical Allele Identifier: CA403619457
Gene: C3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6686152T>G , CM000681.2:g.6686152T>G GRCh38
NC_000019.9:g.6686163T>G , CM000681.1:g.6686163T>G GRCh37
NC_000019.8:g.6637163T>G NCBI36
NG_009557.1:g.39500A>C , LRG_27:g.39500A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000695651.1:n.2130A>C
ENST00000695652.1:c.3659A>C ENSP00000512083.1:p.Tyr1220Ser
ENST00000695653.1:c.1691A>C ENSP00000512084.1:p.Tyr564Ser
ENST00000695654.1:c.2807A>C ENSP00000512085.1:p.Tyr936Ser
ENST00000695655.1:c.2723A>C ENSP00000512086.1:n.2723A>C
ENST00000695692.1:n.3146A>C
ENST00000245907.11:c.3782A>C MANE Select ENSP00000245907.4:p.Tyr1261Ser
ENST00000245907.10:c.3782A>C ENSP00000245907.4:p.Tyr1261Ser
ENST00000596238.1:n.225A>C
ENST00000601008.1:c.241+594A>C ENSP00000471384.1:n.241+594A>C
NM_000064.3:c.3782A>C NP_000055.2:p.Tyr1261Ser
NM_000064.4:c.3782A>C MANE Select NP_000055.2:p.Tyr1261Ser