Canonical Allele Identifier: CA403634058
Gene: C3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6697753C>G , CM000681.2:g.6697753C>G GRCh38
NC_000019.9:g.6697764C>G , CM000681.1:g.6697764C>G GRCh37
NC_000019.8:g.6648764C>G NCBI36
NG_009557.1:g.27899G>C , LRG_27:g.27899G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000695651.1:n.830G>C
ENST00000695652.1:c.2359G>C ENSP00000512083.1:p.Asp787His
ENST00000695653.1:c.391G>C ENSP00000512084.1:p.Asp131His
ENST00000695654.1:c.1606G>C ENSP00000512085.1:p.Asp536His
ENST00000695655.1:c.1423G>C ENSP00000512086.1:n.1423G>C
ENST00000695692.1:n.1846G>C
ENST00000245907.11:c.2482G>C MANE Select ENSP00000245907.4:p.Asp828His
ENST00000245907.10:c.2482G>C ENSP00000245907.4:p.Asp828His
ENST00000602053.1:n.530G>C
NM_000064.3:c.2482G>C NP_000055.2:p.Asp828His
NM_000064.4:c.2482G>C MANE Select NP_000055.2:p.Asp828His