Canonical Allele Identifier: CA1217756880

Gene: CFH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196715534_196715538delinsTACTC , CM000663.2:g.196715534_196715538delinsTACTC	GRCh38
NC_000001.10:g.196684664_196684668delinsTACTC , CM000663.1:g.196684664_196684668delinsTACTC	GRCh37
NC_000001.9:g.194951287_194951291delinsTACTC	NCBI36
NG_007259.1:g.68524_68528delinsTACTC , LRG_47:g.68524_68528delinsTACTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.1786-59_1786-55delinsTACTC
ENST00000695969.1:c.1520-59_1520-55delinsTACTC	ENSP00000512296.1:n.1520-59_1520-55delinsTACTC
ENST00000695970.1:c.1520-59_1520-55delinsTACTC	ENSP00000512297.1:n.1520-59_1520-55delinsTACTC
ENST00000695971.1:c.1499-59_1499-55delinsTACTC	ENSP00000512298.1:n.1499-59_1499-55delinsTACTC
ENST00000695972.1:c.1520-59_1520-55delinsTACTC	ENSP00000512299.1:n.1520-59_1520-55delinsTACTC
ENST00000695973.1:c.1520-59_1520-55delinsTACTC	ENSP00000512300.1:n.1520-59_1520-55delinsTACTC
ENST00000695974.1:c.1520-59_1520-55delinsTACTC	ENSP00000512301.1:n.1520-59_1520-55delinsTACTC
ENST00000695975.1:c.1520-59_1520-55delinsTACTC	ENSP00000512302.1:n.1520-59_1520-55delinsTACTC
ENST00000695976.1:c.1331-59_1331-55delinsTACTC	ENSP00000512303.1:n.1331-59_1331-55delinsTACTC
ENST00000695981.1:c.1520-59_1520-55delinsTACTC	ENSP00000512306.1:n.1520-59_1520-55delinsTACTC
ENST00000695983.1:c.1520-59_1520-55delinsTACTC	ENSP00000512308.1:n.1520-59_1520-55delinsTACTC
ENST00000695984.1:c.245-12812_245-12808delinsTACTC	ENSP00000512309.1:n.245-12812_245-12808delinsTACTC
ENST00000695986.1:c.*1171-59_*1171-55delinsTACTC	ENSP00000512311.1:n.*1171-59_*1171-55delinsTACTC
ENST00000696024.1:n.1604-59_1604-55delinsTACTC
ENST00000696025.1:n.1604-59_1604-55delinsTACTC
ENST00000696026.1:c.1520-59_1520-55delinsTACTC	ENSP00000512335.1:n.1520-59_1520-55delinsTACTC
ENST00000696027.1:c.1520-59_1520-55delinsTACTC	ENSP00000512336.1:n.1520-59_1520-55delinsTACTC
ENST00000696028.1:c.1520-59_1520-55delinsTACTC	ENSP00000512337.1:n.1520-59_1520-55delinsTACTC
ENST00000696029.1:c.1520-59_1520-55delinsTACTC	ENSP00000512338.1:n.1520-59_1520-55delinsTACTC
ENST00000696031.1:c.*1038-59_*1038-55delinsTACTC	ENSP00000512340.1:n.*1038-59_*1038-55delinsTACTC
ENST00000696032.1:c.1520-59_1520-55delinsTACTC	ENSP00000512341.1:n.1520-59_1520-55delinsTACTC
ENST00000696033.1:c.1159+25920_1159+25924delinsTACTC	ENSP00000512342.1:n.1159+25920_1159+25924delinsTACTC
ENST00000367429.9:c.1520-59_1520-55delinsTACTC MANE Select	ENSP00000356399.4:n.1520-59_1520-55delinsTACTC
ENST00000367429.8:c.1520-59_1520-55delinsTACTC	ENSP00000356399.4:n.1520-59_1520-55delinsTACTC
ENST00000466229.5:n.3536-59_3536-55delinsTACTC
NM_000186.3:c.1520-59_1520-55delinsTACTC , LRG_47t1:c.1520-59_1520-55delinsTACTC	NP_000177.2:n.1520-59_1520-55delinsTACTC
XR_001737134.2:n.1605-59_1605-55delinsTACTC
NM_000186.4:c.1520-59_1520-55delinsTACTC MANE Select	NP_000177.2:n.1520-59_1520-55delinsTACTC