Canonical Allele Identifier: CA2649647082

Gene: CFH

Linked Data

• gnomAD v4: 1-196747007-AAAT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747011_196747013del , CM000663.2:g.196747011_196747013del	GRCh38
NC_000001.10:g.196716141_196716143del , CM000663.1:g.196716141_196716143del	GRCh37
NC_000001.9:g.194982764_194982766del	NCBI36
NG_007259.1:g.100001_100003del , LRG_47:g.100001_100003del

Transcript Alleles

HGVS	Amino-acid change
ENST00000470918.2:n.4522-100_4522-98del
ENST00000695970.1:c.3320-100_3320-98del	ENSP00000512297.1:n.3320-100_3320-98del
ENST00000695971.1:c.3473-100_3473-98del	ENSP00000512298.1:n.3473-100_3473-98del
ENST00000695972.1:c.*571-100_*571-98del	ENSP00000512299.1:n.*571-100_*571-98del
ENST00000695973.1:c.*1858-100_*1858-98del	ENSP00000512300.1:n.*1858-100_*1858-98del
ENST00000695974.1:c.3317-100_3317-98del	ENSP00000512301.1:n.3317-100_3317-98del
ENST00000695975.1:c.*1621-100_*1621-98del	ENSP00000512302.1:n.*1621-100_*1621-98del
ENST00000695976.1:c.3305-100_3305-98del	ENSP00000512303.1:n.3305-100_3305-98del
ENST00000695981.1:c.3494-100_3494-98del	ENSP00000512306.1:n.3494-100_3494-98del
ENST00000695984.1:c.1502-100_1502-98del	ENSP00000512309.1:n.1502-100_1502-98del
ENST00000695986.1:c.*3145-100_*3145-98del	ENSP00000512311.1:n.*3145-100_*3145-98del
ENST00000695990.1:n.528-100_528-98del
ENST00000696026.1:c.*1776-100_*1776-98del	ENSP00000512335.1:n.*1776-100_*1776-98del
ENST00000696027.1:c.3488-100_3488-98del	ENSP00000512336.1:n.3488-100_3488-98del
ENST00000696028.1:c.3422-100_3422-98del	ENSP00000512337.1:n.3422-100_3422-98del
ENST00000696029.1:c.3488-100_3488-98del	ENSP00000512338.1:n.3488-100_3488-98del
ENST00000696031.1:c.*3012-100_*3012-98del	ENSP00000512340.1:n.*3012-100_*3012-98del
ENST00000696032.1:c.3494-100_3494-98del	ENSP00000512341.1:n.3494-100_3494-98del
ENST00000696033.1:c.1160-32786_1160-32784del	ENSP00000512342.1:n.1160-32786_1160-32784del
ENST00000367429.9:c.3494-100_3494-98del MANE Select	ENSP00000356399.4:n.3494-100_3494-98del
ENST00000367429.8:c.3494-100_3494-98del	ENSP00000356399.4:n.3494-100_3494-98del
ENST00000466229.5:n.6592-100_6592-98del
NM_000186.3:c.3494-100_3494-98del , LRG_47t1:c.3494-100_3494-98del	NP_000177.2:n.3494-100_3494-98del
XR_001737134.2:n.3680-100_3680-98del
NM_000186.4:c.3494-100_3494-98del MANE Select	NP_000177.2:n.3494-100_3494-98del