Canonical Allele Identifier: CA343989291

Gene: CFH

Linked Data

• MyVariant Identifiers: chr1:g.196716417G>T (hg19) ; chr1:g.196747287G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747287G>T , CM000663.2:g.196747287G>T	GRCh38
NC_000001.10:g.196716417G>T , CM000663.1:g.196716417G>T	GRCh37
NC_000001.9:g.194983040G>T	NCBI36
NG_007259.1:g.100277G>T , LRG_47:g.100277G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000470918.2:n.4698G>T
ENST00000695970.1:c.3496G>T	ENSP00000512297.1:p.Glu1166Ter
ENST00000695971.1:c.3649G>T	ENSP00000512298.1:p.Glu1217Ter
ENST00000695972.1:c.*747G>T	ENSP00000512299.1:n.*747G>T
ENST00000695973.1:c.*2034G>T	ENSP00000512300.1:n.*2034G>T
ENST00000695974.1:c.3493G>T	ENSP00000512301.1:p.Glu1165Ter
ENST00000695975.1:c.*1797G>T	ENSP00000512302.1:n.*1797G>T
ENST00000695976.1:c.3481G>T	ENSP00000512303.1:p.Glu1161Ter
ENST00000695981.1:c.3580+90G>T	ENSP00000512306.1:n.3580+90G>T
ENST00000695984.1:c.1678G>T	ENSP00000512309.1:p.Glu560Ter
ENST00000695986.1:c.*3321G>T	ENSP00000512311.1:n.*3321G>T
ENST00000695990.1:n.704G>T
ENST00000696026.1:c.*1952G>T	ENSP00000512335.1:n.*1952G>T
ENST00000696027.1:c.3664G>T	ENSP00000512336.1:p.Glu1222Ter
ENST00000696028.1:c.3598G>T	ENSP00000512337.1:p.Glu1200Ter
ENST00000696029.1:c.3664G>T	ENSP00000512338.1:p.Glu1222Ter
ENST00000696031.1:c.*3188G>T	ENSP00000512340.1:n.*3188G>T
ENST00000696032.1:c.3580+90G>T	ENSP00000512341.1:n.3580+90G>T
ENST00000696033.1:c.1160-32510G>T	ENSP00000512342.1:n.1160-32510G>T
ENST00000367429.9:c.3670G>T MANE Select	ENSP00000356399.4:p.Glu1224Ter
ENST00000367429.8:c.3670G>T	ENSP00000356399.4:p.Glu1224Ter
ENST00000466229.5:n.6768G>T
NM_000186.3:c.3670G>T , LRG_47t1:c.3670G>T	NP_000177.2:p.Glu1224Ter
XR_001737134.2:n.3856G>T
NM_000186.4:c.3670G>T MANE Select	NP_000177.2:p.Glu1224Ter