Canonical Allele Identifier: CA343989119

Gene: CFH

Linked Data

• MyVariant Identifiers: chr1:g.196716402T>A (hg19) ; chr1:g.196747272T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747272T>A , CM000663.2:g.196747272T>A	GRCh38
NC_000001.10:g.196716402T>A , CM000663.1:g.196716402T>A	GRCh37
NC_000001.9:g.194983025T>A	NCBI36
NG_007259.1:g.100262T>A , LRG_47:g.100262T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000470918.2:n.4683T>A
ENST00000695970.1:c.3481T>A	ENSP00000512297.1:p.Trp1161Arg
ENST00000695971.1:c.3634T>A	ENSP00000512298.1:p.Trp1212Arg
ENST00000695972.1:c.*732T>A	ENSP00000512299.1:n.*732T>A
ENST00000695973.1:c.*2019T>A	ENSP00000512300.1:n.*2019T>A
ENST00000695974.1:c.3478T>A	ENSP00000512301.1:p.Trp1160Arg
ENST00000695975.1:c.*1782T>A	ENSP00000512302.1:n.*1782T>A
ENST00000695976.1:c.3466T>A	ENSP00000512303.1:p.Trp1156Arg
ENST00000695981.1:c.3580+75T>A	ENSP00000512306.1:n.3580+75T>A
ENST00000695984.1:c.1663T>A	ENSP00000512309.1:p.Trp555Arg
ENST00000695986.1:c.*3306T>A	ENSP00000512311.1:n.*3306T>A
ENST00000695990.1:n.689T>A
ENST00000696026.1:c.*1937T>A	ENSP00000512335.1:n.*1937T>A
ENST00000696027.1:c.3649T>A	ENSP00000512336.1:p.Trp1217Arg
ENST00000696028.1:c.3583T>A	ENSP00000512337.1:p.Trp1195Arg
ENST00000696029.1:c.3649T>A	ENSP00000512338.1:p.Trp1217Arg
ENST00000696031.1:c.*3173T>A	ENSP00000512340.1:n.*3173T>A
ENST00000696032.1:c.3580+75T>A	ENSP00000512341.1:n.3580+75T>A
ENST00000696033.1:c.1160-32525T>A	ENSP00000512342.1:n.1160-32525T>A
ENST00000367429.9:c.3655T>A MANE Select	ENSP00000356399.4:p.Trp1219Arg
ENST00000367429.8:c.3655T>A	ENSP00000356399.4:p.Trp1219Arg
ENST00000466229.5:n.6753T>A
NM_000186.3:c.3655T>A , LRG_47t1:c.3655T>A	NP_000177.2:p.Trp1219Arg
XR_001737134.2:n.3841T>A
NM_000186.4:c.3655T>A MANE Select	NP_000177.2:p.Trp1219Arg