Canonical Allele Identifier: CA2649647064

Gene: CFH

Linked Data

• gnomAD v4: 1-196746974-T-TTTCTACATAGTTGGTTTGGATAGTGTTTTGAGAAATAATTCCTGAACCATCATATAACA

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196746981_196747039dup , CM000663.2:g.196746981_196747039dup	GRCh38
NC_000001.10:g.196716111_196716169dup , CM000663.1:g.196716111_196716169dup	GRCh37
NC_000001.9:g.194982734_194982792dup	NCBI36
NG_007259.1:g.99971_100029dup , LRG_47:g.99971_100029dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000470918.2:n.4522-130_4522-72dup
ENST00000695970.1:c.3320-130_3320-72dup	ENSP00000512297.1:n.3320-130_3320-72dup
ENST00000695971.1:c.3473-130_3473-72dup	ENSP00000512298.1:n.3473-130_3473-72dup
ENST00000695972.1:c.*571-130_*571-72dup	ENSP00000512299.1:n.*571-130_*571-72dup
ENST00000695973.1:c.*1858-130_*1858-72dup	ENSP00000512300.1:n.*1858-130_*1858-72dup...
ENST00000695974.1:c.3317-130_3317-72dup	ENSP00000512301.1:n.3317-130_3317-72dup
ENST00000695975.1:c.*1621-130_*1621-72dup	ENSP00000512302.1:n.*1621-130_*1621-72dup...
ENST00000695976.1:c.3305-130_3305-72dup	ENSP00000512303.1:n.3305-130_3305-72dup
ENST00000695981.1:c.3494-130_3494-72dup	ENSP00000512306.1:n.3494-130_3494-72dup
ENST00000695984.1:c.1502-130_1502-72dup	ENSP00000512309.1:n.1502-130_1502-72dup
ENST00000695986.1:c.*3145-130_*3145-72dup	ENSP00000512311.1:n.*3145-130_*3145-72dup...
ENST00000695990.1:n.528-130_528-72dup
ENST00000696026.1:c.*1776-130_*1776-72dup	ENSP00000512335.1:n.*1776-130_*1776-72dup...
ENST00000696027.1:c.3488-130_3488-72dup	ENSP00000512336.1:n.3488-130_3488-72dup
ENST00000696028.1:c.3422-130_3422-72dup	ENSP00000512337.1:n.3422-130_3422-72dup
ENST00000696029.1:c.3488-130_3488-72dup	ENSP00000512338.1:n.3488-130_3488-72dup
ENST00000696031.1:c.*3012-130_*3012-72dup	ENSP00000512340.1:n.*3012-130_*3012-72dup...
ENST00000696032.1:c.3494-130_3494-72dup	ENSP00000512341.1:n.3494-130_3494-72dup
ENST00000696033.1:c.1160-32816_1160-32758dup	ENSP00000512342.1:n.1160-32816_1160-32758...
ENST00000367429.9:c.3494-130_3494-72dup MANE Select	ENSP00000356399.4:n.3494-130_3494-72dup
ENST00000367429.8:c.3494-130_3494-72dup	ENSP00000356399.4:n.3494-130_3494-72dup
ENST00000466229.5:n.6592-130_6592-72dup
NM_000186.3:c.3494-130_3494-72dup , LRG_47t1:c.3494-130_3494-72dup	NP_000177.2:n.3494-130_3494-72dup
XR_001737134.2:n.3680-130_3680-72dup
NM_000186.4:c.3494-130_3494-72dup MANE Select	NP_000177.2:n.3494-130_3494-72dup