Canonical Allele Identifier: CA403619638
Gene: C3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6686186G>C , CM000681.2:g.6686186G>C GRCh38
NC_000019.9:g.6686197G>C , CM000681.1:g.6686197G>C GRCh37
NC_000019.8:g.6637197G>C NCBI36
NG_009557.1:g.39466C>G , LRG_27:g.39466C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000695651.1:n.2096C>G
ENST00000695652.1:c.3625C>G ENSP00000512083.1:p.Pro1209Ala
ENST00000695653.1:c.1657C>G ENSP00000512084.1:p.Pro553Ala
ENST00000695654.1:c.2773C>G ENSP00000512085.1:p.Pro925Ala
ENST00000695655.1:c.2689C>G ENSP00000512086.1:n.2689C>G
ENST00000695692.1:n.3112C>G
ENST00000245907.11:c.3748C>G MANE Select ENSP00000245907.4:p.Pro1250Ala
ENST00000245907.10:c.3748C>G ENSP00000245907.4:p.Pro1250Ala
ENST00000596238.1:n.191C>G
ENST00000601008.1:c.241+560C>G ENSP00000471384.1:n.241+560C>G
NM_000064.3:c.3748C>G NP_000055.2:p.Pro1250Ala
NM_000064.4:c.3748C>G MANE Select NP_000055.2:p.Pro1250Ala