Canonical Allele Identifier: CA403639383
Gene: C3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6709763T>A , CM000681.2:g.6709763T>A GRCh38
NC_000019.9:g.6709774T>A , CM000681.1:g.6709774T>A GRCh37
NC_000019.8:g.6660774T>A NCBI36
NG_009557.1:g.15889A>T , LRG_27:g.15889A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000695652.1:c.1643A>T ENSP00000512083.1:p.His548Leu
ENST00000695654.1:c.890A>T ENSP00000512085.1:p.His297Leu
ENST00000695655.1:c.707A>T ENSP00000512086.1:n.707A>T
ENST00000695692.1:n.1130A>T
ENST00000245907.11:c.1766A>T MANE Select ENSP00000245907.4:p.His589Leu
ENST00000245907.10:c.1766A>T ENSP00000245907.4:p.His589Leu
ENST00000600763.1:n.399A>T
NM_000064.3:c.1766A>T NP_000055.2:p.His589Leu
NM_000064.4:c.1766A>T MANE Select NP_000055.2:p.His589Leu