Canonical Allele Identifier: CA645536234

Gene: CFH

Linked Data

• COSMIC: COSM4564015

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196713883_196713884delinsAT , CM000663.2:g.196713883_196713884delinsAT	GRCh38
NC_000001.10:g.196683013_196683014delinsAT , CM000663.1:g.196683013_196683014delinsAT	GRCh37
NC_000001.9:g.194949636_194949637delinsAT	NCBI36
NG_007259.1:g.66873_66874delinsAT , LRG_47:g.66873_66874delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.1751_1752delinsAT
ENST00000695969.1:c.1485_1486delinsAT	ENSP00000512296.1:p.Gly496Ter
ENST00000695970.1:c.1485_1486delinsAT	ENSP00000512297.1:p.Gly496Ter
ENST00000695971.1:c.1464_1465delinsAT	ENSP00000512298.1:p.Gly489Ter
ENST00000695972.1:c.1485_1486delinsAT	ENSP00000512299.1:p.Gly496Ter
ENST00000695973.1:c.1485_1486delinsAT	ENSP00000512300.1:p.Gly496Ter
ENST00000695974.1:c.1485_1486delinsAT	ENSP00000512301.1:p.Gly496Ter
ENST00000695975.1:c.1485_1486delinsAT	ENSP00000512302.1:p.Gly496Ter
ENST00000695976.1:c.1296_1297delinsAT	ENSP00000512303.1:p.Gly433Ter
ENST00000695981.1:c.1485_1486delinsAT	ENSP00000512306.1:p.Gly496Ter
ENST00000695983.1:c.1485_1486delinsAT	ENSP00000512308.1:p.Gly496Ter
ENST00000695984.1:c.245-14463_245-14462delinsAT	ENSP00000512309.1:n.245-14463_245-14462delinsAT
ENST00000695986.1:c.*1136_*1137delinsAT	ENSP00000512311.1:n.*1136_*1137delinsAT
ENST00000696024.1:n.1569_1570delinsAT
ENST00000696025.1:n.1569_1570delinsAT
ENST00000696026.1:c.1485_1486delinsAT	ENSP00000512335.1:p.Gly496Ter
ENST00000696027.1:c.1485_1486delinsAT	ENSP00000512336.1:p.Gly496Ter
ENST00000696028.1:c.1485_1486delinsAT	ENSP00000512337.1:p.Gly496Ter
ENST00000696029.1:c.1485_1486delinsAT	ENSP00000512338.1:p.Gly496Ter
ENST00000696031.1:c.*1003_*1004delinsAT	ENSP00000512340.1:n.*1003_*1004delinsAT
ENST00000696032.1:c.1485_1486delinsAT	ENSP00000512341.1:p.Gly496Ter
ENST00000696033.1:c.1159+24269_1159+24270delinsAT	ENSP00000512342.1:n.1159+24269_1159+24270delinsAT
ENST00000367429.9:c.1485_1486delinsAT MANE Select	ENSP00000356399.4:p.Gly496Ter
ENST00000367429.8:c.1485_1486delinsAT	ENSP00000356399.4:p.Gly496Ter
ENST00000466229.5:n.3501_3502delinsAT
NM_000186.3:c.1485_1486delinsAT , LRG_47t1:c.1485_1486delinsAT	NP_000177.2:p.Gly496Ter
XR_001737134.2:n.1570_1571delinsAT
NM_000186.4:c.1485_1486delinsAT MANE Select	NP_000177.2:p.Gly496Ter