Canonical Allele Identifier: CA2649645031

Gene: CFH

Linked Data

• gnomAD v4: 1-196715467-ATTTTTGTACGGT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196715468_196715479del , CM000663.2:g.196715468_196715479del	GRCh38
NC_000001.10:g.196684598_196684609del , CM000663.1:g.196684598_196684609del	GRCh37
NC_000001.9:g.194951221_194951232del	NCBI36
NG_007259.1:g.68458_68469del , LRG_47:g.68458_68469del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.1786-125_1786-114del
ENST00000695969.1:c.1520-125_1520-114del	ENSP00000512296.1:n.1520-125_1520-114del
ENST00000695970.1:c.1520-125_1520-114del	ENSP00000512297.1:n.1520-125_1520-114del
ENST00000695971.1:c.1499-125_1499-114del	ENSP00000512298.1:n.1499-125_1499-114del
ENST00000695972.1:c.1520-125_1520-114del	ENSP00000512299.1:n.1520-125_1520-114del
ENST00000695973.1:c.1520-125_1520-114del	ENSP00000512300.1:n.1520-125_1520-114del
ENST00000695974.1:c.1520-125_1520-114del	ENSP00000512301.1:n.1520-125_1520-114del
ENST00000695975.1:c.1520-125_1520-114del	ENSP00000512302.1:n.1520-125_1520-114del
ENST00000695976.1:c.1331-125_1331-114del	ENSP00000512303.1:n.1331-125_1331-114del
ENST00000695981.1:c.1520-125_1520-114del	ENSP00000512306.1:n.1520-125_1520-114del
ENST00000695983.1:c.1520-125_1520-114del	ENSP00000512308.1:n.1520-125_1520-114del
ENST00000695984.1:c.245-12878_245-12867del	ENSP00000512309.1:n.245-12878_245-12867del
ENST00000695986.1:c.*1171-125_*1171-114del	ENSP00000512311.1:n.*1171-125_*1171-114del
ENST00000696024.1:n.1604-125_1604-114del
ENST00000696025.1:n.1604-125_1604-114del
ENST00000696026.1:c.1520-125_1520-114del	ENSP00000512335.1:n.1520-125_1520-114del
ENST00000696027.1:c.1520-125_1520-114del	ENSP00000512336.1:n.1520-125_1520-114del
ENST00000696028.1:c.1520-125_1520-114del	ENSP00000512337.1:n.1520-125_1520-114del
ENST00000696029.1:c.1520-125_1520-114del	ENSP00000512338.1:n.1520-125_1520-114del
ENST00000696031.1:c.*1038-125_*1038-114del	ENSP00000512340.1:n.*1038-125_*1038-114del
ENST00000696032.1:c.1520-125_1520-114del	ENSP00000512341.1:n.1520-125_1520-114del
ENST00000696033.1:c.1159+25854_1159+25865del	ENSP00000512342.1:n.1159+25854_1159+25865del
ENST00000367429.9:c.1520-125_1520-114del MANE Select	ENSP00000356399.4:n.1520-125_1520-114del
ENST00000367429.8:c.1520-125_1520-114del	ENSP00000356399.4:n.1520-125_1520-114del
ENST00000466229.5:n.3536-125_3536-114del
NM_000186.3:c.1520-125_1520-114del , LRG_47t1:c.1520-125_1520-114del	NP_000177.2:n.1520-125_1520-114del
XR_001737134.2:n.1605-125_1605-114del
NM_000186.4:c.1520-125_1520-114del MANE Select	NP_000177.2:n.1520-125_1520-114del