Canonical Allele Identifier: CA1217769033

Gene: CFH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196743603_196743605delinsCTG , CM000663.2:g.196743603_196743605delinsCTG	GRCh38
NC_000001.10:g.196712733_196712735delinsCTG , CM000663.1:g.196712733_196712735delinsCTG	GRCh37
NC_000001.9:g.194979356_194979358delinsCTG	NCBI36
NG_007259.1:g.96593_96595delinsCTG , LRG_47:g.96593_96595delinsCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4313_4315delinsCTG
ENST00000695970.1:c.3111_3113delinsCTG	ENSP00000512297.1:p.Asn1037=
ENST00000695971.1:c.3264_3266delinsCTG	ENSP00000512298.1:p.Asn1088=
ENST00000695972.1:c.*362_*364delinsCTG	ENSP00000512299.1:n.*362_*364delinsCTG
ENST00000695973.1:c.*1649_*1651delinsCTG	ENSP00000512300.1:n.*1649_*1651delinsCTG
ENST00000695974.1:c.3108_3110delinsCTG	ENSP00000512301.1:p.Asn1036=
ENST00000695975.1:c.*1412_*1414delinsCTG	ENSP00000512302.1:n.*1412_*1414delinsCTG
ENST00000695976.1:c.3096_3098delinsCTG	ENSP00000512303.1:p.Asn1032=
ENST00000695981.1:c.3285_3287delinsCTG	ENSP00000512306.1:p.Asn1095=
ENST00000695984.1:c.1293_1295delinsCTG	ENSP00000512309.1:p.Asn431=
ENST00000695986.1:c.*2936_*2938delinsCTG	ENSP00000512311.1:n.*2936_*2938delinsCTG
ENST00000696026.1:c.*1567_*1569delinsCTG	ENSP00000512335.1:n.*1567_*1569delinsCTG
ENST00000696027.1:c.3279_3281delinsCTG	ENSP00000512336.1:p.Asn1093=
ENST00000696028.1:c.3213_3215delinsCTG	ENSP00000512337.1:p.Asn1071=
ENST00000696029.1:c.3279_3281delinsCTG	ENSP00000512338.1:p.Asn1093=
ENST00000696031.1:c.*2803_*2805delinsCTG	ENSP00000512340.1:n.*2803_*2805delinsCTG
ENST00000696032.1:c.3285_3287delinsCTG	ENSP00000512341.1:p.Asn1095=
ENST00000696033.1:c.1160-36194_1160-36192delinsCTG	ENSP00000512342.1:n.1160-36194_1160-36192delinsCTG
ENST00000367429.9:c.3285_3287delinsCTG MANE Select	ENSP00000356399.4:p.Asn1095=
ENST00000367429.8:c.3285_3287delinsCTG	ENSP00000356399.4:p.Asn1095=
ENST00000466229.5:n.6383_6385delinsCTG
NM_000186.3:c.3285_3287delinsCTG , LRG_47t1:c.3285_3287delinsCTG	NP_000177.2:p.Asn1095=
XR_001737134.2:n.3471_3473delinsCTG
NM_000186.4:c.3285_3287delinsCTG MANE Select	NP_000177.2:p.Asn1095=