Canonical Allele Identifier: CA2838508526

Gene: CFH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747373T>C , CM000663.2:g.196747373T>C	GRCh38
NC_000001.10:g.196716503T>C , CM000663.1:g.196716503T>C	GRCh37
NC_000001.9:g.194983126T>C	NCBI36
NG_007259.1:g.100363T>C , LRG_47:g.100363T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4784T>C
ENST00000695970.1:c.*60T>C	ENSP00000512297.1:n.*60T>C
ENST00000695971.1:c.*60T>C	ENSP00000512298.1:n.*60T>C
ENST00000695972.1:c.*833T>C	ENSP00000512299.1:n.*833T>C
ENST00000695973.1:c.*2120T>C	ENSP00000512300.1:n.*2120T>C
ENST00000695974.1:c.*60T>C	ENSP00000512301.1:n.*60T>C
ENST00000695975.1:c.*1883T>C	ENSP00000512302.1:n.*1883T>C
ENST00000695976.1:c.*60T>C	ENSP00000512303.1:n.*60T>C
ENST00000695981.1:c.3580+176T>C	ENSP00000512306.1:n.3580+176T>C
ENST00000695984.1:c.*60T>C	ENSP00000512309.1:n.*60T>C
ENST00000695986.1:c.*3407T>C	ENSP00000512311.1:n.*3407T>C
ENST00000695990.1:n.790T>C
ENST00000696026.1:c.*2038T>C	ENSP00000512335.1:n.*2038T>C
ENST00000696027.1:c.*60T>C	ENSP00000512336.1:n.*60T>C
ENST00000696028.1:c.*60T>C	ENSP00000512337.1:n.*60T>C
ENST00000696029.1:c.*60T>C	ENSP00000512338.1:n.*60T>C
ENST00000696031.1:c.*3274T>C	ENSP00000512340.1:n.*3274T>C
ENST00000696032.1:c.3580+176T>C	ENSP00000512341.1:n.3580+176T>C
ENST00000696033.1:c.1160-32424T>C	ENSP00000512342.1:n.1160-32424T>C
ENST00000367429.9:c.*60T>C MANE Select	ENSP00000356399.4:n.*60T>C
ENST00000367429.8:c.*60T>C	ENSP00000356399.4:n.*60T>C
ENST00000466229.5:n.6854T>C
NM_000186.3:c.*60T>C , LRG_47t1:c.*60T>C	NP_000177.2:n.*60T>C
XR_001737134.2:n.3942T>C
NM_000186.4:c.*60T>C MANE Select	NP_000177.2:n.*60T>C