Canonical Allele Identifier: CA343987534
Gene: CFH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.196747175A>T , CM000663.2:g.196747175A>T GRCh38
NC_000001.10:g.196716305A>T , CM000663.1:g.196716305A>T GRCh37
NC_000001.9:g.194982928A>T NCBI36
NG_007259.1:g.100165A>T , LRG_47:g.100165A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000470918.2:n.4586A>T
ENST00000695970.1:c.3384A>T ENSP00000512297.1:p.Lys1128Asn
ENST00000695971.1:c.3537A>T ENSP00000512298.1:p.Lys1179Asn
ENST00000695972.1:c.*635A>T ENSP00000512299.1:n.*635A>T
ENST00000695973.1:c.*1922A>T ENSP00000512300.1:n.*1922A>T
ENST00000695974.1:c.3381A>T ENSP00000512301.1:p.Lys1127Asn
ENST00000695975.1:c.*1685A>T ENSP00000512302.1:n.*1685A>T
ENST00000695976.1:c.3369A>T ENSP00000512303.1:p.Lys1123Asn
ENST00000695981.1:c.3558A>T ENSP00000512306.1:p.Lys1186Asn
ENST00000695984.1:c.1566A>T ENSP00000512309.1:p.Lys522Asn
ENST00000695986.1:c.*3209A>T ENSP00000512311.1:n.*3209A>T
ENST00000695990.1:n.592A>T
ENST00000696026.1:c.*1840A>T ENSP00000512335.1:n.*1840A>T
ENST00000696027.1:c.3552A>T ENSP00000512336.1:p.Lys1184Asn
ENST00000696028.1:c.3486A>T ENSP00000512337.1:p.Lys1162Asn
ENST00000696029.1:c.3552A>T ENSP00000512338.1:p.Lys1184Asn
ENST00000696031.1:c.*3076A>T ENSP00000512340.1:n.*3076A>T
ENST00000696032.1:c.3558A>T ENSP00000512341.1:p.Lys1186Asn
ENST00000696033.1:c.1160-32622A>T ENSP00000512342.1:n.1160-32622A>T
ENST00000367429.9:c.3558A>T MANE Select ENSP00000356399.4:p.Lys1186Asn
ENST00000367429.8:c.3558A>T ENSP00000356399.4:p.Lys1186Asn
ENST00000466229.5:n.6656A>T
NM_000186.3:c.3558A>T , LRG_47t1:c.3558A>T NP_000177.2:p.Lys1186Asn
XR_001737134.2:n.3744A>T
NM_000186.4:c.3558A>T MANE Select NP_000177.2:p.Lys1186Asn