Canonical Allele Identifier: CA343982740

Gene: CFH

Linked Data

• MyVariant Identifiers: chr1:g.196712584A>T (hg19) ; chr1:g.196743454A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196743454A>T , CM000663.2:g.196743454A>T	GRCh38
NC_000001.10:g.196712584A>T , CM000663.1:g.196712584A>T	GRCh37
NC_000001.9:g.194979207A>T	NCBI36
NG_007259.1:g.96444A>T , LRG_47:g.96444A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000470918.2:n.4164A>T
ENST00000695970.1:c.2962A>T	ENSP00000512297.1:p.Thr988Ser
ENST00000695971.1:c.3115A>T	ENSP00000512298.1:p.Thr1039Ser
ENST00000695972.1:c.*213A>T	ENSP00000512299.1:n.*213A>T
ENST00000695973.1:c.*1500A>T	ENSP00000512300.1:n.*1500A>T
ENST00000695974.1:c.2959A>T	ENSP00000512301.1:p.Thr987Ser
ENST00000695975.1:c.*1263A>T	ENSP00000512302.1:n.*1263A>T
ENST00000695976.1:c.2947A>T	ENSP00000512303.1:p.Thr983Ser
ENST00000695981.1:c.3136A>T	ENSP00000512306.1:p.Thr1046Ser
ENST00000695984.1:c.1144A>T	ENSP00000512309.1:p.Thr382Ser
ENST00000695986.1:c.*2787A>T	ENSP00000512311.1:n.*2787A>T
ENST00000696026.1:c.*1418A>T	ENSP00000512335.1:n.*1418A>T
ENST00000696027.1:c.3130A>T	ENSP00000512336.1:p.Thr1044Ser
ENST00000696028.1:c.3064A>T	ENSP00000512337.1:p.Thr1022Ser
ENST00000696029.1:c.3130A>T	ENSP00000512338.1:p.Thr1044Ser
ENST00000696031.1:c.*2654A>T	ENSP00000512340.1:n.*2654A>T
ENST00000696032.1:c.3136A>T	ENSP00000512341.1:p.Thr1046Ser
ENST00000696033.1:c.1160-36343A>T	ENSP00000512342.1:n.1160-36343A>T
ENST00000367429.9:c.3136A>T MANE Select	ENSP00000356399.4:p.Thr1046Ser
ENST00000367429.8:c.3136A>T	ENSP00000356399.4:p.Thr1046Ser
ENST00000466229.5:n.6234A>T
NM_000186.3:c.3136A>T , LRG_47t1:c.3136A>T	NP_000177.2:p.Thr1046Ser
XR_001737134.2:n.3322A>T
NM_000186.4:c.3136A>T MANE Select	NP_000177.2:p.Thr1046Ser