Canonical Allele Identifier: CA403632814
Gene: C3 HGNC NCBI

Linked Data

gnomAD v4: 19-6697413-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6697413T>A , CM000681.2:g.6697413T>A GRCh38
NC_000019.9:g.6697424T>A , CM000681.1:g.6697424T>A GRCh37
NC_000019.8:g.6648424T>A NCBI36
NG_009557.1:g.28239A>T , LRG_27:g.28239A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000695651.1:n.1075A>T
ENST00000695652.1:c.2604A>T ENSP00000512083.1:p.Glu868Asp
ENST00000695653.1:c.636A>T ENSP00000512084.1:p.Glu212Asp
ENST00000695654.1:c.1851A>T ENSP00000512085.1:p.Glu617Asp
ENST00000695655.1:c.1668A>T ENSP00000512086.1:n.1668A>T
ENST00000695692.1:n.2091A>T
ENST00000245907.11:c.2727A>T MANE Select ENSP00000245907.4:p.Glu909Asp
ENST00000245907.10:c.2727A>T ENSP00000245907.4:p.Glu909Asp
ENST00000594005.1:n.303A>T
NM_000064.3:c.2727A>T NP_000055.2:p.Glu909Asp
NM_000064.4:c.2727A>T MANE Select NP_000055.2:p.Glu909Asp