Canonical Allele Identifier: CA2649647283

Gene: CFH

Linked Data

• gnomAD v4: 1-196747373-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747374del , CM000663.2:g.196747374del	GRCh38
NC_000001.10:g.196716504del , CM000663.1:g.196716504del	GRCh37
NC_000001.9:g.194983127del	NCBI36
NG_007259.1:g.100364del , LRG_47:g.100364del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4785del
ENST00000695970.1:c.*61del	ENSP00000512297.1:n.*61del
ENST00000695971.1:c.*61del	ENSP00000512298.1:n.*61del
ENST00000695972.1:c.*834del	ENSP00000512299.1:n.*834del
ENST00000695973.1:c.*2121del	ENSP00000512300.1:n.*2121del
ENST00000695974.1:c.*61del	ENSP00000512301.1:n.*61del
ENST00000695975.1:c.*1884del	ENSP00000512302.1:n.*1884del
ENST00000695976.1:c.*61del	ENSP00000512303.1:n.*61del
ENST00000695981.1:c.3580+177del	ENSP00000512306.1:n.3580+177del
ENST00000695984.1:c.*61del	ENSP00000512309.1:n.*61del
ENST00000695986.1:c.*3408del	ENSP00000512311.1:n.*3408del
ENST00000695990.1:n.791del
ENST00000696026.1:c.*2039del	ENSP00000512335.1:n.*2039del
ENST00000696027.1:c.*61del	ENSP00000512336.1:n.*61del
ENST00000696028.1:c.*61del	ENSP00000512337.1:n.*61del
ENST00000696029.1:c.*61del	ENSP00000512338.1:n.*61del
ENST00000696031.1:c.*3275del	ENSP00000512340.1:n.*3275del
ENST00000696032.1:c.3580+177del	ENSP00000512341.1:n.3580+177del
ENST00000696033.1:c.1160-32423del	ENSP00000512342.1:n.1160-32423del
ENST00000367429.9:c.*61del MANE Select	ENSP00000356399.4:n.*61del
ENST00000367429.8:c.*61del	ENSP00000356399.4:n.*61del
ENST00000466229.5:n.6855del
NM_000186.3:c.*61del , LRG_47t1:c.*61del	NP_000177.2:n.*61del
XR_001737134.2:n.3943del
NM_000186.4:c.*61del MANE Select	NP_000177.2:n.*61del