Canonical Allele Identifier: CA1217757057

Gene: CFH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196715684_196715685delinsTG , CM000663.2:g.196715684_196715685delinsTG	GRCh38
NC_000001.10:g.196684814_196684815delinsTG , CM000663.1:g.196684814_196684815delinsTG	GRCh37
NC_000001.9:g.194951437_194951438delinsTG	NCBI36
NG_007259.1:g.68674_68675delinsTG , LRG_47:g.68674_68675delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.1877_1878delinsTG
ENST00000695969.1:c.1611_1612delinsTG	ENSP00000512296.1:p.His537=
ENST00000695970.1:c.1611_1612delinsTG	ENSP00000512297.1:p.His537=
ENST00000695971.1:c.1590_1591delinsTG	ENSP00000512298.1:p.His530=
ENST00000695972.1:c.1611_1612delinsTG	ENSP00000512299.1:p.His537=
ENST00000695973.1:c.1611_1612delinsTG	ENSP00000512300.1:p.His537=
ENST00000695974.1:c.1611_1612delinsTG	ENSP00000512301.1:p.His537=
ENST00000695975.1:c.1611_1612delinsTG	ENSP00000512302.1:p.His537=
ENST00000695976.1:c.1422_1423delinsTG	ENSP00000512303.1:p.His474=
ENST00000695981.1:c.1611_1612delinsTG	ENSP00000512306.1:p.His537=
ENST00000695983.1:c.1611_1612delinsTG	ENSP00000512308.1:p.His537=
ENST00000695984.1:c.245-12662_245-12661delinsTG	ENSP00000512309.1:n.245-12662_245-12661delinsTG
ENST00000695986.1:c.*1262_*1263delinsTG	ENSP00000512311.1:n.*1262_*1263delinsTG
ENST00000696024.1:n.1695_1696delinsTG
ENST00000696025.1:n.1695_1696delinsTG
ENST00000696026.1:c.1611_1612delinsTG	ENSP00000512335.1:p.His537=
ENST00000696027.1:c.1611_1612delinsTG	ENSP00000512336.1:p.His537=
ENST00000696028.1:c.1611_1612delinsTG	ENSP00000512337.1:p.His537=
ENST00000696029.1:c.1611_1612delinsTG	ENSP00000512338.1:p.His537=
ENST00000696031.1:c.*1129_*1130delinsTG	ENSP00000512340.1:n.*1129_*1130delinsTG
ENST00000696032.1:c.1611_1612delinsTG	ENSP00000512341.1:p.His537=
ENST00000696033.1:c.1159+26070_1159+26071delinsTG	ENSP00000512342.1:n.1159+26070_1159+26071delinsTG
ENST00000367429.9:c.1611_1612delinsTG MANE Select	ENSP00000356399.4:p.His537=
ENST00000367429.8:c.1611_1612delinsTG	ENSP00000356399.4:p.His537=
ENST00000466229.5:n.3627_3628delinsTG
NM_000186.3:c.1611_1612delinsTG , LRG_47t1:c.1611_1612delinsTG	NP_000177.2:p.His537=
XR_001737134.2:n.1696_1697delinsTG
NM_000186.4:c.1611_1612delinsTG MANE Select	NP_000177.2:p.His537=