Canonical Allele Identifier: CA403633716
Gene: C3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6697662T>A , CM000681.2:g.6697662T>A GRCh38
NC_000019.9:g.6697673T>A , CM000681.1:g.6697673T>A GRCh37
NC_000019.8:g.6648673T>A NCBI36
NG_009557.1:g.27990A>T , LRG_27:g.27990A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000695651.1:n.921A>T
ENST00000695652.1:c.2450A>T ENSP00000512083.1:p.Gln817Leu
ENST00000695653.1:c.482A>T ENSP00000512084.1:p.Gln161Leu
ENST00000695654.1:c.1697A>T ENSP00000512085.1:p.Gln566Leu
ENST00000695655.1:c.1514A>T ENSP00000512086.1:n.1514A>T
ENST00000695692.1:n.1937A>T
ENST00000245907.11:c.2573A>T MANE Select ENSP00000245907.4:p.Gln858Leu
ENST00000245907.10:c.2573A>T ENSP00000245907.4:p.Gln858Leu
ENST00000594005.1:n.54A>T
ENST00000602053.1:n.621A>T
NM_000064.3:c.2573A>T NP_000055.2:p.Gln858Leu
NM_000064.4:c.2573A>T MANE Select NP_000055.2:p.Gln858Leu