Canonical Allele Identifier: CA2747229542

Gene: CFH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196717724_196717725insTATGT , CM000663.2:g.196717724_196717725insTATGT	GRCh38
NC_000001.10:g.196686854_196686855insTATGT , CM000663.1:g.196686854_196686855insTATGT	GRCh37
NC_000001.9:g.194953477_194953478insTATGT	NCBI36
NG_007259.1:g.70714_70715insTATGT , LRG_47:g.70714_70715insTATGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.1962+1955_1962+1956insTATGT
ENST00000695969.1:c.1696+1955_1696+1956insTATGT	ENSP00000512296.1:n.1696+1955_1696+1956insTATGT
ENST00000695970.1:c.1696+1955_1696+1956insTATGT	ENSP00000512297.1:n.1696+1955_1696+1956insTATGT
ENST00000695971.1:c.1675+1955_1675+1956insTATGT	ENSP00000512298.1:n.1675+1955_1675+1956insTATGT
ENST00000695972.1:c.1696+1955_1696+1956insTATGT	ENSP00000512299.1:n.1696+1955_1696+1956insTATGT
ENST00000695973.1:c.1696+1955_1696+1956insTATGT	ENSP00000512300.1:n.1696+1955_1696+1956insTATGT
ENST00000695974.1:c.1696+1955_1696+1956insTATGT	ENSP00000512301.1:n.1696+1955_1696+1956insTATGT
ENST00000695975.1:c.1696+1955_1696+1956insTATGT	ENSP00000512302.1:n.1696+1955_1696+1956insTATGT
ENST00000695976.1:c.1507+1955_1507+1956insTATGT	ENSP00000512303.1:n.1507+1955_1507+1956insTATGT
ENST00000695981.1:c.1696+1955_1696+1956insTATGT	ENSP00000512306.1:n.1696+1955_1696+1956insTATGT
ENST00000695983.1:c.1696+1955_1696+1956insTATGT	ENSP00000512308.1:n.1696+1955_1696+1956insTATGT
ENST00000695984.1:c.245-10622_245-10621insTATGT	ENSP00000512309.1:n.245-10622_245-10621insTATGT
ENST00000695986.1:c.*1347+1955_*1347+1956insTATGT	ENSP00000512311.1:n.*1347+1955_*1347+1956insTATGT
ENST00000696025.1:n.1780+1955_1780+1956insTATGT
ENST00000696026.1:c.1700+1951_1700+1952insTATGT	ENSP00000512335.1:n.1700+1951_1700+1952insTATGT
ENST00000696027.1:c.1696+1955_1696+1956insTATGT	ENSP00000512336.1:n.1696+1955_1696+1956insTATGT
ENST00000696028.1:c.1696+1955_1696+1956insTATGT	ENSP00000512337.1:n.1696+1955_1696+1956insTATGT
ENST00000696029.1:c.1696+1955_1696+1956insTATGT	ENSP00000512338.1:n.1696+1955_1696+1956insTATGT
ENST00000696031.1:c.*1214+1955_*1214+1956insTATGT	ENSP00000512340.1:n.*1214+1955_*1214+1956insTATGT
ENST00000696032.1:c.1696+1955_1696+1956insTATGT	ENSP00000512341.1:n.1696+1955_1696+1956insTATGT
ENST00000696033.1:c.1159+28110_1159+28111insTATGT	ENSP00000512342.1:n.1159+28110_1159+28111insTATGT
ENST00000367429.9:c.1696+1955_1696+1956insTATGT MANE Select	ENSP00000356399.4:n.1696+1955_1696+1956insTATGT
ENST00000367429.8:c.1696+1955_1696+1956insTATGT	ENSP00000356399.4:n.1696+1955_1696+1956insTATGT
ENST00000466229.5:n.3712+1955_3712+1956insTATGT
NM_000186.3:c.1696+1955_1696+1956insTATGT , LRG_47t1:c.1696+1955_1696+1956insTATGT	NP_000177.2:n.1696+1955_1696+1956insTATGT
XR_001737134.2:n.1781+1955_1781+1956insTATGT
NM_000186.4:c.1696+1955_1696+1956insTATGT MANE Select	NP_000177.2:n.1696+1955_1696+1956insTATGT