Canonical Allele Identifier: CA645523478

Gene: CFH

Linked Data

• COSMIC: COSM394209

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747277_196747278delinsAT , CM000663.2:g.196747277_196747278delinsAT	GRCh38
NC_000001.10:g.196716407_196716408delinsAT , CM000663.1:g.196716407_196716408delinsAT	GRCh37
NC_000001.9:g.194983030_194983031delinsAT	NCBI36
NG_007259.1:g.100267_100268delinsAT , LRG_47:g.100267_100268delinsAT

Transcript Alleles

HGVS	Amino-acid change
ENST00000470918.2:n.4688_4689delinsAT
ENST00000695970.1:c.3486_3487delinsAT	ENSP00000512297.1:p.Asp1162_Gly1163delins...
ENST00000695971.1:c.3639_3640delinsAT	ENSP00000512298.1:p.Asp1213_Gly1214delins...
ENST00000695972.1:c.*737_*738delinsAT	ENSP00000512299.1:n.*737_*738delinsAT
ENST00000695973.1:c.*2024_*2025delinsAT	ENSP00000512300.1:n.*2024_*2025delinsAT
ENST00000695974.1:c.3483_3484delinsAT	ENSP00000512301.1:p.Asp1161_Gly1162delins...
ENST00000695975.1:c.*1787_*1788delinsAT	ENSP00000512302.1:n.*1787_*1788delinsAT
ENST00000695976.1:c.3471_3472delinsAT	ENSP00000512303.1:p.Asp1157_Gly1158delins...
ENST00000695981.1:c.3580+80_3580+81delinsAT	ENSP00000512306.1:n.3580+80_3580+81delins...
ENST00000695984.1:c.1668_1669delinsAT	ENSP00000512309.1:p.Asp556_Gly557delinsGl...
ENST00000695986.1:c.*3311_*3312delinsAT	ENSP00000512311.1:n.*3311_*3312delinsAT
ENST00000695990.1:n.694_695delinsAT
ENST00000696026.1:c.*1942_*1943delinsAT	ENSP00000512335.1:n.*1942_*1943delinsAT
ENST00000696027.1:c.3654_3655delinsAT	ENSP00000512336.1:p.Asp1218_Gly1219delins...
ENST00000696028.1:c.3588_3589delinsAT	ENSP00000512337.1:p.Asp1196_Gly1197delins...
ENST00000696029.1:c.3654_3655delinsAT	ENSP00000512338.1:p.Asp1218_Gly1219delins...
ENST00000696031.1:c.*3178_*3179delinsAT	ENSP00000512340.1:n.*3178_*3179delinsAT
ENST00000696032.1:c.3580+80_3580+81delinsAT	ENSP00000512341.1:n.3580+80_3580+81delins...
ENST00000696033.1:c.1160-32520_1160-32519delinsAT	ENSP00000512342.1:n.1160-32520_1160-32519...
ENST00000367429.9:c.3660_3661delinsAT MANE Select	ENSP00000356399.4:p.Asp1220_Gly1221delins...
ENST00000367429.8:c.3660_3661delinsAT	ENSP00000356399.4:p.Asp1220_Gly1221delins...
ENST00000466229.5:n.6758_6759delinsAT
NM_000186.3:c.3660_3661delinsAT , LRG_47t1:c.3660_3661delinsAT	NP_000177.2:p.Asp1220_Gly1221delinsGluTrp...
XR_001737134.2:n.3846_3847delinsAT
NM_000186.4:c.3660_3661delinsAT MANE Select	NP_000177.2:p.Asp1220_Gly1221delinsGluTrp...