Canonical Allele Identifier: CA343989197

Gene: CFH

Linked Data

• MyVariant Identifiers: chr1:g.196716406A>T (hg19) ; chr1:g.196747276A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747276A>T , CM000663.2:g.196747276A>T	GRCh38
NC_000001.10:g.196716406A>T , CM000663.1:g.196716406A>T	GRCh37
NC_000001.9:g.194983029A>T	NCBI36
NG_007259.1:g.100266A>T , LRG_47:g.100266A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000470918.2:n.4687A>T
ENST00000695970.1:c.3485A>T	ENSP00000512297.1:p.Asp1162Val
ENST00000695971.1:c.3638A>T	ENSP00000512298.1:p.Asp1213Val
ENST00000695972.1:c.*736A>T	ENSP00000512299.1:n.*736A>T
ENST00000695973.1:c.*2023A>T	ENSP00000512300.1:n.*2023A>T
ENST00000695974.1:c.3482A>T	ENSP00000512301.1:p.Asp1161Val
ENST00000695975.1:c.*1786A>T	ENSP00000512302.1:n.*1786A>T
ENST00000695976.1:c.3470A>T	ENSP00000512303.1:p.Asp1157Val
ENST00000695981.1:c.3580+79A>T	ENSP00000512306.1:n.3580+79A>T
ENST00000695984.1:c.1667A>T	ENSP00000512309.1:p.Asp556Val
ENST00000695986.1:c.*3310A>T	ENSP00000512311.1:n.*3310A>T
ENST00000695990.1:n.693A>T
ENST00000696026.1:c.*1941A>T	ENSP00000512335.1:n.*1941A>T
ENST00000696027.1:c.3653A>T	ENSP00000512336.1:p.Asp1218Val
ENST00000696028.1:c.3587A>T	ENSP00000512337.1:p.Asp1196Val
ENST00000696029.1:c.3653A>T	ENSP00000512338.1:p.Asp1218Val
ENST00000696031.1:c.*3177A>T	ENSP00000512340.1:n.*3177A>T
ENST00000696032.1:c.3580+79A>T	ENSP00000512341.1:n.3580+79A>T
ENST00000696033.1:c.1160-32521A>T	ENSP00000512342.1:n.1160-32521A>T
ENST00000367429.9:c.3659A>T MANE Select	ENSP00000356399.4:p.Asp1220Val
ENST00000367429.8:c.3659A>T	ENSP00000356399.4:p.Asp1220Val
ENST00000466229.5:n.6757A>T
NM_000186.3:c.3659A>T , LRG_47t1:c.3659A>T	NP_000177.2:p.Asp1220Val
XR_001737134.2:n.3845A>T
NM_000186.4:c.3659A>T MANE Select	NP_000177.2:p.Asp1220Val