Canonical Allele Identifier: CA343987407
Gene: CFH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.196747164T>G , CM000663.2:g.196747164T>G GRCh38
NC_000001.10:g.196716294T>G , CM000663.1:g.196716294T>G GRCh37
NC_000001.9:g.194982917T>G NCBI36
NG_007259.1:g.100154T>G , LRG_47:g.100154T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000470918.2:n.4575T>G
ENST00000695970.1:c.3373T>G ENSP00000512297.1:p.Trp1125Gly
ENST00000695971.1:c.3526T>G ENSP00000512298.1:p.Trp1176Gly
ENST00000695972.1:c.*624T>G ENSP00000512299.1:n.*624T>G
ENST00000695973.1:c.*1911T>G ENSP00000512300.1:n.*1911T>G
ENST00000695974.1:c.3370T>G ENSP00000512301.1:p.Trp1124Gly
ENST00000695975.1:c.*1674T>G ENSP00000512302.1:n.*1674T>G
ENST00000695976.1:c.3358T>G ENSP00000512303.1:p.Trp1120Gly
ENST00000695981.1:c.3547T>G ENSP00000512306.1:p.Trp1183Gly
ENST00000695984.1:c.1555T>G ENSP00000512309.1:p.Trp519Gly
ENST00000695986.1:c.*3198T>G ENSP00000512311.1:n.*3198T>G
ENST00000695990.1:n.581T>G
ENST00000696026.1:c.*1829T>G ENSP00000512335.1:n.*1829T>G
ENST00000696027.1:c.3541T>G ENSP00000512336.1:p.Trp1181Gly
ENST00000696028.1:c.3475T>G ENSP00000512337.1:p.Trp1159Gly
ENST00000696029.1:c.3541T>G ENSP00000512338.1:p.Trp1181Gly
ENST00000696031.1:c.*3065T>G ENSP00000512340.1:n.*3065T>G
ENST00000696032.1:c.3547T>G ENSP00000512341.1:p.Trp1183Gly
ENST00000696033.1:c.1160-32633T>G ENSP00000512342.1:n.1160-32633T>G
ENST00000367429.9:c.3547T>G MANE Select ENSP00000356399.4:p.Trp1183Gly
ENST00000367429.8:c.3547T>G ENSP00000356399.4:p.Trp1183Gly
ENST00000466229.5:n.6645T>G
NM_000186.3:c.3547T>G , LRG_47t1:c.3547T>G NP_000177.2:p.Trp1183Gly
XR_001737134.2:n.3733T>G
NM_000186.4:c.3547T>G MANE Select NP_000177.2:p.Trp1183Gly