Canonical Allele Identifier: CA343983795

Gene: CFH

Linked Data

• MyVariant Identifiers: chr1:g.196712693A>T (hg19) ; chr1:g.196743563A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196743563A>T , CM000663.2:g.196743563A>T	GRCh38
NC_000001.10:g.196712693A>T , CM000663.1:g.196712693A>T	GRCh37
NC_000001.9:g.194979316A>T	NCBI36
NG_007259.1:g.96553A>T , LRG_47:g.96553A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000470918.2:n.4273A>T
ENST00000695970.1:c.3071A>T	ENSP00000512297.1:p.Glu1024Val
ENST00000695971.1:c.3224A>T	ENSP00000512298.1:p.Glu1075Val
ENST00000695972.1:c.*322A>T	ENSP00000512299.1:n.*322A>T
ENST00000695973.1:c.*1609A>T	ENSP00000512300.1:n.*1609A>T
ENST00000695974.1:c.3068A>T	ENSP00000512301.1:p.Glu1023Val
ENST00000695975.1:c.*1372A>T	ENSP00000512302.1:n.*1372A>T
ENST00000695976.1:c.3056A>T	ENSP00000512303.1:p.Glu1019Val
ENST00000695981.1:c.3245A>T	ENSP00000512306.1:p.Glu1082Val
ENST00000695984.1:c.1253A>T	ENSP00000512309.1:p.Glu418Val
ENST00000695986.1:c.*2896A>T	ENSP00000512311.1:n.*2896A>T
ENST00000696026.1:c.*1527A>T	ENSP00000512335.1:n.*1527A>T
ENST00000696027.1:c.3239A>T	ENSP00000512336.1:p.Glu1080Val
ENST00000696028.1:c.3173A>T	ENSP00000512337.1:p.Glu1058Val
ENST00000696029.1:c.3239A>T	ENSP00000512338.1:p.Glu1080Val
ENST00000696031.1:c.*2763A>T	ENSP00000512340.1:n.*2763A>T
ENST00000696032.1:c.3245A>T	ENSP00000512341.1:p.Glu1082Val
ENST00000696033.1:c.1160-36234A>T	ENSP00000512342.1:n.1160-36234A>T
ENST00000367429.9:c.3245A>T MANE Select	ENSP00000356399.4:p.Glu1082Val
ENST00000367429.8:c.3245A>T	ENSP00000356399.4:p.Glu1082Val
ENST00000466229.5:n.6343A>T
NM_000186.3:c.3245A>T , LRG_47t1:c.3245A>T	NP_000177.2:p.Glu1082Val
XR_001737134.2:n.3431A>T
NM_000186.4:c.3245A>T MANE Select	NP_000177.2:p.Glu1082Val