Canonical Allele Identifier: CA403634161
Gene: C3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6697780C>A , CM000681.2:g.6697780C>A GRCh38
NC_000019.9:g.6697791C>A , CM000681.1:g.6697791C>A GRCh37
NC_000019.8:g.6648791C>A NCBI36
NG_009557.1:g.27872G>T , LRG_27:g.27872G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000695651.1:n.803G>T
ENST00000695652.1:c.2332G>T ENSP00000512083.1:p.Asp778Tyr
ENST00000695653.1:c.364G>T ENSP00000512084.1:p.Asp122Tyr
ENST00000695654.1:c.1579G>T ENSP00000512085.1:p.Asp527Tyr
ENST00000695655.1:c.1396G>T ENSP00000512086.1:n.1396G>T
ENST00000695692.1:n.1819G>T
ENST00000245907.11:c.2455G>T MANE Select ENSP00000245907.4:p.Asp819Tyr
ENST00000245907.10:c.2455G>T ENSP00000245907.4:p.Asp819Tyr
ENST00000602053.1:n.503G>T
NM_000064.3:c.2455G>T NP_000055.2:p.Asp819Tyr
NM_000064.4:c.2455G>T MANE Select NP_000055.2:p.Asp819Tyr