Canonical Allele Identifier: CA528533915

Gene: CFH

Linked Data

• dbSNP Id: rs1357665685
• gnomAD v2: 1-196659239-TGGA-T
• MyVariant Identifiers: chr1:g.196659240_196659242del (hg19) ; chr1:g.196690110_196690112del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196690110_196690112del , CM000663.2:g.196690110_196690112del	GRCh38
NC_000001.10:g.196659240_196659242del , CM000663.1:g.196659240_196659242del	GRCh37
NC_000001.9:g.194925863_194925865del	NCBI36
NG_007259.1:g.43100_43102del , LRG_47:g.43100_43102del

Transcript Alleles

HGVS	Amino-acid change
ENST00000359637.3:c.1015_1017del	ENSP00000352658.2:p.Gly339del
ENST00000470918.2:n.1473_1475del
ENST00000695968.1:c.1024_1026del	ENSP00000512295.1:p.Gly342del
ENST00000695969.1:c.1207_1209del	ENSP00000512296.1:p.Gly403del
ENST00000695970.1:c.1207_1209del	ENSP00000512297.1:p.Gly403del
ENST00000695971.1:c.1186_1188del	ENSP00000512298.1:p.Gly396del
ENST00000695972.1:c.1207_1209del	ENSP00000512299.1:p.Gly403del
ENST00000695973.1:c.1207_1209del	ENSP00000512300.1:p.Gly403del
ENST00000695974.1:c.1207_1209del	ENSP00000512301.1:p.Gly403del
ENST00000695975.1:c.1207_1209del	ENSP00000512302.1:p.Gly403del
ENST00000695976.1:c.1018_1020del	ENSP00000512303.1:p.Gly340del
ENST00000695977.1:n.48_50del
ENST00000695978.1:c.1207_1209del	ENSP00000512304.1:p.Gly403del
ENST00000695979.1:c.1186_1188del	ENSP00000512305.1:p.Gly396del
ENST00000695980.1:n.1327_1329del
ENST00000695981.1:c.1207_1209del	ENSP00000512306.1:p.Gly403del
ENST00000695983.1:c.1207_1209del	ENSP00000512308.1:p.Gly403del
ENST00000695984.1:c.244+16947_244+16949del	ENSP00000512309.1:n.244+16947_244+16949de...
ENST00000695986.1:c.*858_*860del	ENSP00000512311.1:n.*858_*860del
ENST00000695987.1:c.1018_1020del	ENSP00000512312.1:p.Gly340del
ENST00000696018.1:n.1291_1293del
ENST00000696019.1:n.1291_1293del
ENST00000696020.1:n.1291_1293del
ENST00000696021.1:n.1270_1272del
ENST00000696022.1:n.1291_1293del
ENST00000696023.1:c.1207_1209del	ENSP00000512334.1:p.Gly403del
ENST00000696024.1:n.1291_1293del
ENST00000696025.1:n.1291_1293del
ENST00000696026.1:c.1207_1209del	ENSP00000512335.1:p.Gly403del
ENST00000696027.1:c.1207_1209del	ENSP00000512336.1:p.Gly403del
ENST00000696028.1:c.1207_1209del	ENSP00000512337.1:p.Gly403del
ENST00000696029.1:c.1207_1209del	ENSP00000512338.1:p.Gly403del
ENST00000696030.1:c.1132_1134del	ENSP00000512339.1:p.Gly378del
ENST00000696031.1:c.*725_*727del	ENSP00000512340.1:n.*725_*727del
ENST00000696032.1:c.1207_1209del	ENSP00000512341.1:p.Gly403del
ENST00000696033.1:c.1159+496_1159+498del	ENSP00000512342.1:n.1159+496_1159+498del
ENST00000367429.9:c.1207_1209del MANE Select	ENSP00000356399.4:p.Gly403del
ENST00000359637.2:c.1015_1017del	ENSP00000352658.2:p.Gly339del
ENST00000367429.8:c.1207_1209del	ENSP00000356399.4:p.Gly403del
ENST00000466229.5:n.3223_3225del
ENST00000630130.2:c.1207_1209del	ENSP00000487250.1:p.Gly403del
NM_000186.3:c.1207_1209del , LRG_47t1:c.1207_1209del	NP_000177.2:p.Gly403del
NM_001014975.2:c.1207_1209del	NP_001014975.1:p.Gly403del
XM_017001108.2:c.1207_1209del	XP_016856597.1:p.Gly403del
XR_001737134.2:n.1292_1294del
NM_000186.4:c.1207_1209del MANE Select	NP_000177.2:p.Gly403del
NM_001014975.3:c.1207_1209del	NP_001014975.1:p.Gly403del