Canonical Allele Identifier: CA343988133

Gene: CFH

Linked Data

• MyVariant Identifiers: chr1:g.196716376G>T (hg19) ; chr1:g.196747246G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747246G>T , CM000663.2:g.196747246G>T	GRCh38
NC_000001.10:g.196716376G>T , CM000663.1:g.196716376G>T	GRCh37
NC_000001.9:g.194982999G>T	NCBI36
NG_007259.1:g.100236G>T , LRG_47:g.100236G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4657G>T
ENST00000695970.1:c.3455G>T	ENSP00000512297.1:p.Arg1152Leu
ENST00000695971.1:c.3608G>T	ENSP00000512298.1:p.Arg1203Leu
ENST00000695972.1:c.*706G>T	ENSP00000512299.1:n.*706G>T
ENST00000695973.1:c.*1993G>T	ENSP00000512300.1:n.*1993G>T
ENST00000695974.1:c.3452G>T	ENSP00000512301.1:p.Arg1151Leu
ENST00000695975.1:c.*1756G>T	ENSP00000512302.1:n.*1756G>T
ENST00000695976.1:c.3440G>T	ENSP00000512303.1:p.Arg1147Leu
ENST00000695981.1:c.3580+49G>T	ENSP00000512306.1:n.3580+49G>T
ENST00000695984.1:c.1637G>T	ENSP00000512309.1:p.Arg546Leu
ENST00000695986.1:c.*3280G>T	ENSP00000512311.1:n.*3280G>T
ENST00000695990.1:n.663G>T
ENST00000696026.1:c.*1911G>T	ENSP00000512335.1:n.*1911G>T
ENST00000696027.1:c.3623G>T	ENSP00000512336.1:p.Arg1208Leu
ENST00000696028.1:c.3557G>T	ENSP00000512337.1:p.Arg1186Leu
ENST00000696029.1:c.3623G>T	ENSP00000512338.1:p.Arg1208Leu
ENST00000696031.1:c.*3147G>T	ENSP00000512340.1:n.*3147G>T
ENST00000696032.1:c.3580+49G>T	ENSP00000512341.1:n.3580+49G>T
ENST00000696033.1:c.1160-32551G>T	ENSP00000512342.1:n.1160-32551G>T
ENST00000367429.9:c.3629G>T MANE Select	ENSP00000356399.4:p.Arg1210Leu
ENST00000367429.8:c.3629G>T	ENSP00000356399.4:p.Arg1210Leu
ENST00000466229.5:n.6727G>T
NM_000186.3:c.3629G>T , LRG_47t1:c.3629G>T	NP_000177.2:p.Arg1210Leu
XR_001737134.2:n.3815G>T
NM_000186.4:c.3629G>T MANE Select	NP_000177.2:p.Arg1210Leu