Canonical Allele Identifier: CA343989178

Gene: CFH

Linked Data

• COSMIC: COSM6123202
• MyVariant Identifiers: chr1:g.196716404G>T (hg19) ; chr1:g.196747274G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747274G>T , CM000663.2:g.196747274G>T	GRCh38
NC_000001.10:g.196716404G>T , CM000663.1:g.196716404G>T	GRCh37
NC_000001.9:g.194983027G>T	NCBI36
NG_007259.1:g.100264G>T , LRG_47:g.100264G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000470918.2:n.4685G>T
ENST00000695970.1:c.3483G>T	ENSP00000512297.1:p.Trp1161Cys
ENST00000695971.1:c.3636G>T	ENSP00000512298.1:p.Trp1212Cys
ENST00000695972.1:c.*734G>T	ENSP00000512299.1:n.*734G>T
ENST00000695973.1:c.*2021G>T	ENSP00000512300.1:n.*2021G>T
ENST00000695974.1:c.3480G>T	ENSP00000512301.1:p.Trp1160Cys
ENST00000695975.1:c.*1784G>T	ENSP00000512302.1:n.*1784G>T
ENST00000695976.1:c.3468G>T	ENSP00000512303.1:p.Trp1156Cys
ENST00000695981.1:c.3580+77G>T	ENSP00000512306.1:n.3580+77G>T
ENST00000695984.1:c.1665G>T	ENSP00000512309.1:p.Trp555Cys
ENST00000695986.1:c.*3308G>T	ENSP00000512311.1:n.*3308G>T
ENST00000695990.1:n.691G>T
ENST00000696026.1:c.*1939G>T	ENSP00000512335.1:n.*1939G>T
ENST00000696027.1:c.3651G>T	ENSP00000512336.1:p.Trp1217Cys
ENST00000696028.1:c.3585G>T	ENSP00000512337.1:p.Trp1195Cys
ENST00000696029.1:c.3651G>T	ENSP00000512338.1:p.Trp1217Cys
ENST00000696031.1:c.*3175G>T	ENSP00000512340.1:n.*3175G>T
ENST00000696032.1:c.3580+77G>T	ENSP00000512341.1:n.3580+77G>T
ENST00000696033.1:c.1160-32523G>T	ENSP00000512342.1:n.1160-32523G>T
ENST00000367429.9:c.3657G>T MANE Select	ENSP00000356399.4:p.Trp1219Cys
ENST00000367429.8:c.3657G>T	ENSP00000356399.4:p.Trp1219Cys
ENST00000466229.5:n.6755G>T
NM_000186.3:c.3657G>T , LRG_47t1:c.3657G>T	NP_000177.2:p.Trp1219Cys
XR_001737134.2:n.3843G>T
NM_000186.4:c.3657G>T MANE Select	NP_000177.2:p.Trp1219Cys