Canonical Allele Identifier: CA1217755573

Gene: CFH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196713948_196713949delinsTC , CM000663.2:g.196713948_196713949delinsTC	GRCh38
NC_000001.10:g.196683078_196683079delinsTC , CM000663.1:g.196683078_196683079delinsTC	GRCh37
NC_000001.9:g.194949701_194949702delinsTC	NCBI36
NG_007259.1:g.66938_66939delinsTC , LRG_47:g.66938_66939delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.1785+31_1785+32delinsTC
ENST00000695969.1:c.1519+31_1519+32delinsTC	ENSP00000512296.1:n.1519+31_1519+32delinsTC
ENST00000695970.1:c.1519+31_1519+32delinsTC	ENSP00000512297.1:n.1519+31_1519+32delinsTC
ENST00000695971.1:c.1498+31_1498+32delinsTC	ENSP00000512298.1:n.1498+31_1498+32delinsTC
ENST00000695972.1:c.1519+31_1519+32delinsTC	ENSP00000512299.1:n.1519+31_1519+32delinsTC
ENST00000695973.1:c.1519+31_1519+32delinsTC	ENSP00000512300.1:n.1519+31_1519+32delinsTC
ENST00000695974.1:c.1519+31_1519+32delinsTC	ENSP00000512301.1:n.1519+31_1519+32delinsTC
ENST00000695975.1:c.1519+31_1519+32delinsTC	ENSP00000512302.1:n.1519+31_1519+32delinsTC
ENST00000695976.1:c.1330+31_1330+32delinsTC	ENSP00000512303.1:n.1330+31_1330+32delinsTC
ENST00000695981.1:c.1519+31_1519+32delinsTC	ENSP00000512306.1:n.1519+31_1519+32delinsTC
ENST00000695983.1:c.1519+31_1519+32delinsTC	ENSP00000512308.1:n.1519+31_1519+32delinsTC
ENST00000695984.1:c.245-14398_245-14397delinsTC	ENSP00000512309.1:n.245-14398_245-14397delinsTC
ENST00000695986.1:c.*1170+31_*1170+32delinsTC	ENSP00000512311.1:n.*1170+31_*1170+32delinsTC
ENST00000696024.1:n.1603+31_1603+32delinsTC
ENST00000696025.1:n.1603+31_1603+32delinsTC
ENST00000696026.1:c.1519+31_1519+32delinsTC	ENSP00000512335.1:n.1519+31_1519+32delinsTC
ENST00000696027.1:c.1519+31_1519+32delinsTC	ENSP00000512336.1:n.1519+31_1519+32delinsTC
ENST00000696028.1:c.1519+31_1519+32delinsTC	ENSP00000512337.1:n.1519+31_1519+32delinsTC
ENST00000696029.1:c.1519+31_1519+32delinsTC	ENSP00000512338.1:n.1519+31_1519+32delinsTC
ENST00000696031.1:c.*1037+31_*1037+32delinsTC	ENSP00000512340.1:n.*1037+31_*1037+32delinsTC
ENST00000696032.1:c.1519+31_1519+32delinsTC	ENSP00000512341.1:n.1519+31_1519+32delinsTC
ENST00000696033.1:c.1159+24334_1159+24335delinsTC	ENSP00000512342.1:n.1159+24334_1159+24335delinsTC
ENST00000367429.9:c.1519+31_1519+32delinsTC MANE Select	ENSP00000356399.4:n.1519+31_1519+32delinsTC
ENST00000367429.8:c.1519+31_1519+32delinsTC	ENSP00000356399.4:n.1519+31_1519+32delinsTC
ENST00000466229.5:n.3535+31_3535+32delinsTC
NM_000186.3:c.1519+31_1519+32delinsTC , LRG_47t1:c.1519+31_1519+32delinsTC	NP_000177.2:n.1519+31_1519+32delinsTC
XR_001737134.2:n.1604+31_1604+32delinsTC
NM_000186.4:c.1519+31_1519+32delinsTC MANE Select	NP_000177.2:n.1519+31_1519+32delinsTC