Canonical Allele Identifier: CA1217770801

Gene: CFH

Linked Data

• dbSNP Id: rs745678648

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747321C>T , CM000663.2:g.196747321C>T	GRCh38
NC_000001.10:g.196716451C>T , CM000663.1:g.196716451C>T	GRCh37
NC_000001.9:g.194983074C>T	NCBI36
NG_007259.1:g.100311C>T , LRG_47:g.100311C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4732C>T
ENST00000695970.1:c.*8C>T	ENSP00000512297.1:n.*8C>T
ENST00000695971.1:c.*8C>T	ENSP00000512298.1:n.*8C>T
ENST00000695972.1:c.*781C>T	ENSP00000512299.1:n.*781C>T
ENST00000695973.1:c.*2068C>T	ENSP00000512300.1:n.*2068C>T
ENST00000695974.1:c.*8C>T	ENSP00000512301.1:n.*8C>T
ENST00000695975.1:c.*1831C>T	ENSP00000512302.1:n.*1831C>T
ENST00000695976.1:c.*8C>T	ENSP00000512303.1:n.*8C>T
ENST00000695981.1:c.3580+124C>T	ENSP00000512306.1:n.3580+124C>T
ENST00000695984.1:c.*8C>T	ENSP00000512309.1:n.*8C>T
ENST00000695986.1:c.*3355C>T	ENSP00000512311.1:n.*3355C>T
ENST00000695990.1:n.738C>T
ENST00000696026.1:c.*1986C>T	ENSP00000512335.1:n.*1986C>T
ENST00000696027.1:c.*8C>T	ENSP00000512336.1:n.*8C>T
ENST00000696028.1:c.*8C>T	ENSP00000512337.1:n.*8C>T
ENST00000696029.1:c.*8C>T	ENSP00000512338.1:n.*8C>T
ENST00000696031.1:c.*3222C>T	ENSP00000512340.1:n.*3222C>T
ENST00000696032.1:c.3580+124C>T	ENSP00000512341.1:n.3580+124C>T
ENST00000696033.1:c.1160-32476C>T	ENSP00000512342.1:n.1160-32476C>T
ENST00000367429.9:c.*8C>T MANE Select	ENSP00000356399.4:n.*8C>T
ENST00000367429.8:c.*8C>T	ENSP00000356399.4:n.*8C>T
ENST00000466229.5:n.6802C>T
NM_000186.3:c.*8C>T , LRG_47t1:c.*8C>T	NP_000177.2:n.*8C>T
XR_001737134.2:n.3890C>T
NM_000186.4:c.*8C>T MANE Select	NP_000177.2:n.*8C>T