Canonical Allele Identifier: CA1305895

Gene: CFH

Linked Data

• dbSNP Id: rs764340632
• ExAC: 1:196712733 CTG / C
• gnomAD v2: 1-196712733-CTG-C
• gnomAD v3: 1-196743603-CTG-C
• gnomAD v4: 1-196743603-CTG-C
• MyVariant Identifiers: chr1:g.196712734_196712735del (hg19) ; chr1:g.196743604_196743605del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196743604_196743605del , CM000663.2:g.196743604_196743605del	GRCh38
NC_000001.10:g.196712734_196712735del , CM000663.1:g.196712734_196712735del	GRCh37
NC_000001.9:g.194979357_194979358del	NCBI36
NG_007259.1:g.96594_96595del , LRG_47:g.96594_96595del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4314_4315del
ENST00000695970.1:c.3112_3113del	ENSP00000512297.1:p.Trp1038AspfsTer20
ENST00000695971.1:c.3265_3266del	ENSP00000512298.1:p.Trp1089AspfsTer20
ENST00000695972.1:c.*363_*364del	ENSP00000512299.1:n.*363_*364del
ENST00000695973.1:c.*1650_*1651del	ENSP00000512300.1:n.*1650_*1651del
ENST00000695974.1:c.3109_3110del	ENSP00000512301.1:p.Trp1037AspfsTer20
ENST00000695975.1:c.*1413_*1414del	ENSP00000512302.1:n.*1413_*1414del
ENST00000695976.1:c.3097_3098del	ENSP00000512303.1:p.Trp1033AspfsTer20
ENST00000695981.1:c.3286_3287del	ENSP00000512306.1:p.Trp1096AspfsTer20
ENST00000695984.1:c.1294_1295del	ENSP00000512309.1:p.Trp432AspfsTer20
ENST00000695986.1:c.*2937_*2938del	ENSP00000512311.1:n.*2937_*2938del
ENST00000696026.1:c.*1568_*1569del	ENSP00000512335.1:n.*1568_*1569del
ENST00000696027.1:c.3280_3281del	ENSP00000512336.1:p.Trp1094AspfsTer20
ENST00000696028.1:c.3214_3215del	ENSP00000512337.1:p.Trp1072AspfsTer20
ENST00000696029.1:c.3280_3281del	ENSP00000512338.1:p.Trp1094AspfsTer20
ENST00000696031.1:c.*2804_*2805del	ENSP00000512340.1:n.*2804_*2805del
ENST00000696032.1:c.3286_3287del	ENSP00000512341.1:p.Trp1096AspfsTer20
ENST00000696033.1:c.1160-36193_1160-36192del	ENSP00000512342.1:n.1160-36193_1160-36192del
ENST00000367429.9:c.3286_3287del MANE Select	ENSP00000356399.4:p.Trp1096AspfsTer20
ENST00000367429.8:c.3286_3287del	ENSP00000356399.4:p.Trp1096AspfsTer20
ENST00000466229.5:n.6384_6385del
NM_000186.3:c.3286_3287del , LRG_47t1:c.3286_3287del	NP_000177.2:p.Trp1096AspfsTer20
XR_001737134.2:n.3472_3473del
NM_000186.4:c.3286_3287del MANE Select	NP_000177.2:p.Trp1096AspfsTer20