Canonical Allele Identifier: CA2649643515

Gene: CFH

Linked Data

• gnomAD v4: 1-196690015-TTA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196690017_196690018del , CM000663.2:g.196690017_196690018del	GRCh38
NC_000001.10:g.196659147_196659148del , CM000663.1:g.196659147_196659148del	GRCh37
NC_000001.9:g.194925770_194925771del	NCBI36
NG_007259.1:g.43007_43008del , LRG_47:g.43007_43008del

Transcript Alleles

HGVS	Amino-acid change
ENST00000359637.3:c.968-46_968-45del	ENSP00000352658.2:n.968-46_968-45del
ENST00000470918.2:n.1426-46_1426-45del
ENST00000695968.1:c.977-46_977-45del	ENSP00000512295.1:n.977-46_977-45del
ENST00000695969.1:c.1160-46_1160-45del	ENSP00000512296.1:n.1160-46_1160-45del
ENST00000695970.1:c.1160-46_1160-45del	ENSP00000512297.1:n.1160-46_1160-45del
ENST00000695971.1:c.1139-46_1139-45del	ENSP00000512298.1:n.1139-46_1139-45del
ENST00000695972.1:c.1160-46_1160-45del	ENSP00000512299.1:n.1160-46_1160-45del
ENST00000695973.1:c.1160-46_1160-45del	ENSP00000512300.1:n.1160-46_1160-45del
ENST00000695974.1:c.1160-46_1160-45del	ENSP00000512301.1:n.1160-46_1160-45del
ENST00000695975.1:c.1160-46_1160-45del	ENSP00000512302.1:n.1160-46_1160-45del
ENST00000695976.1:c.971-46_971-45del	ENSP00000512303.1:n.971-46_971-45del
ENST00000695978.1:c.1160-46_1160-45del	ENSP00000512304.1:n.1160-46_1160-45del
ENST00000695979.1:c.1139-46_1139-45del	ENSP00000512305.1:n.1139-46_1139-45del
ENST00000695980.1:n.1280-46_1280-45del
ENST00000695981.1:c.1160-46_1160-45del	ENSP00000512306.1:n.1160-46_1160-45del
ENST00000695983.1:c.1160-46_1160-45del	ENSP00000512308.1:n.1160-46_1160-45del
ENST00000695984.1:c.244+16854_244+16855del	ENSP00000512309.1:n.244+16854_244+16855de...
ENST00000695986.1:c.*811-46_*811-45del	ENSP00000512311.1:n.*811-46_*811-45del
ENST00000695987.1:c.971-46_971-45del	ENSP00000512312.1:n.971-46_971-45del
ENST00000696018.1:n.1244-46_1244-45del
ENST00000696019.1:n.1244-46_1244-45del
ENST00000696020.1:n.1244-46_1244-45del
ENST00000696021.1:n.1223-46_1223-45del
ENST00000696022.1:n.1244-46_1244-45del
ENST00000696023.1:c.1160-46_1160-45del	ENSP00000512334.1:n.1160-46_1160-45del
ENST00000696024.1:n.1244-46_1244-45del
ENST00000696025.1:n.1244-46_1244-45del
ENST00000696026.1:c.1160-46_1160-45del	ENSP00000512335.1:n.1160-46_1160-45del
ENST00000696027.1:c.1160-46_1160-45del	ENSP00000512336.1:n.1160-46_1160-45del
ENST00000696028.1:c.1160-46_1160-45del	ENSP00000512337.1:n.1160-46_1160-45del
ENST00000696029.1:c.1160-46_1160-45del	ENSP00000512338.1:n.1160-46_1160-45del
ENST00000696030.1:c.1085-46_1085-45del	ENSP00000512339.1:n.1085-46_1085-45del
ENST00000696031.1:c.*678-46_*678-45del	ENSP00000512340.1:n.*678-46_*678-45del
ENST00000696032.1:c.1160-46_1160-45del	ENSP00000512341.1:n.1160-46_1160-45del
ENST00000696033.1:c.1159+403_1159+404del	ENSP00000512342.1:n.1159+403_1159+404del
ENST00000367429.9:c.1160-46_1160-45del MANE Select	ENSP00000356399.4:n.1160-46_1160-45del
ENST00000359637.2:c.968-46_968-45del	ENSP00000352658.2:n.968-46_968-45del
ENST00000367429.8:c.1160-46_1160-45del	ENSP00000356399.4:n.1160-46_1160-45del
ENST00000466229.5:n.3176-46_3176-45del
ENST00000630130.2:c.1160-46_1160-45del	ENSP00000487250.1:n.1160-46_1160-45del
NM_000186.3:c.1160-46_1160-45del , LRG_47t1:c.1160-46_1160-45del	NP_000177.2:n.1160-46_1160-45del
NM_001014975.2:c.1160-46_1160-45del	NP_001014975.1:n.1160-46_1160-45del
XM_017001108.2:c.1160-46_1160-45del	XP_016856597.1:n.1160-46_1160-45del
XR_001737134.2:n.1245-46_1245-45del
NM_000186.4:c.1160-46_1160-45del MANE Select	NP_000177.2:n.1160-46_1160-45del
NM_001014975.3:c.1160-46_1160-45del	NP_001014975.1:n.1160-46_1160-45del