Canonical Allele Identifier: CA2523318136

Gene: CFH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196729484T>A , CM000663.2:g.196729484T>A	GRCh38
NC_000001.10:g.196698614T>A , CM000663.1:g.196698614T>A	GRCh37
NC_000001.9:g.194965237T>A	NCBI36
NG_007259.1:g.82474T>A , LRG_47:g.82474T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000470918.2:n.2679+962T>A
ENST00000695969.1:c.2413+962T>A	ENSP00000512296.1:n.2413+962T>A
ENST00000695970.1:c.2413+962T>A	ENSP00000512297.1:n.2413+962T>A
ENST00000695971.1:c.2392+962T>A	ENSP00000512298.1:n.2392+962T>A
ENST00000695972.1:c.2232+2548T>A	ENSP00000512299.1:n.2232+2548T>A
ENST00000695973.1:c.*777+962T>A	ENSP00000512300.1:n.*777+962T>A
ENST00000695974.1:c.2236+962T>A	ENSP00000512301.1:n.2236+962T>A
ENST00000695975.1:c.*540+962T>A	ENSP00000512302.1:n.*540+962T>A
ENST00000695976.1:c.2224+962T>A	ENSP00000512303.1:n.2224+962T>A
ENST00000695981.1:c.2413+962T>A	ENSP00000512306.1:n.2413+962T>A
ENST00000695983.1:c.2413+962T>A	ENSP00000512308.1:n.2413+962T>A
ENST00000695984.1:c.421+962T>A	ENSP00000512309.1:n.421+962T>A
ENST00000695986.1:c.*2064+962T>A	ENSP00000512311.1:n.*2064+962T>A
ENST00000696025.1:n.2497+962T>A
ENST00000696026.1:c.*695+962T>A	ENSP00000512335.1:n.*695+962T>A
ENST00000696027.1:c.2407+962T>A	ENSP00000512336.1:n.2407+962T>A
ENST00000696028.1:c.2413+962T>A	ENSP00000512337.1:n.2413+962T>A
ENST00000696029.1:c.2413+962T>A	ENSP00000512338.1:n.2413+962T>A
ENST00000696031.1:c.*1931+962T>A	ENSP00000512340.1:n.*1931+962T>A
ENST00000696032.1:c.2413+962T>A	ENSP00000512341.1:n.2413+962T>A
ENST00000696033.1:c.1159+39870T>A	ENSP00000512342.1:n.1159+39870T>A
ENST00000367429.9:c.2413+962T>A MANE Select	ENSP00000356399.4:n.2413+962T>A
ENST00000367429.8:c.2413+962T>A	ENSP00000356399.4:n.2413+962T>A
ENST00000466229.5:n.4429+962T>A
NM_000186.3:c.2413+962T>A , LRG_47t1:c.2413+962T>A	NP_000177.2:n.2413+962T>A
XR_001737134.2:n.2599+962T>A
NM_000186.4:c.2413+962T>A MANE Select	NP_000177.2:n.2413+962T>A