Canonical Allele Identifier: CA403625629
Gene: C3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6692971C>A , CM000681.2:g.6692971C>A GRCh38
NC_000019.9:g.6692982C>A , CM000681.1:g.6692982C>A GRCh37
NC_000019.8:g.6643982C>A NCBI36
NG_009557.1:g.32681G>T , LRG_27:g.32681G>T

Transcript Alleles

HGVS Amino-acid Change
NM_000064.4:c.3343G>T MANE Select NP_000055.2:p.Asp1115Tyr
ENST00000245907.11:c.3343G>T MANE Select ENSP00000245907.4:p.Asp1115Tyr
NM_000064.3:c.3343G>T NP_000055.2:p.Asp1115Tyr
ENST00000245907.10:c.3343G>T ENSP00000245907.4:p.Asp1115Tyr
ENST00000598805.2:n.113G>T
ENST00000695651.1:n.1691G>T
ENST00000695652.1:c.3220G>T ENSP00000512083.1:p.Asp1074Tyr
ENST00000695653.1:c.1252G>T ENSP00000512084.1:p.Asp418Tyr
ENST00000695654.1:c.2467G>T ENSP00000512085.1:p.Asp823Tyr
ENST00000695655.1:c.2284G>T ENSP00000512086.1:n.2284G>T
ENST00000695692.1:n.2707G>T