Canonical Allele Identifier: CA343983638

Gene: CFH

Linked Data

• MyVariant Identifiers: chr1:g.196712677T>A (hg19) ; chr1:g.196743547T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196743547T>A , CM000663.2:g.196743547T>A	GRCh38
NC_000001.10:g.196712677T>A , CM000663.1:g.196712677T>A	GRCh37
NC_000001.9:g.194979300T>A	NCBI36
NG_007259.1:g.96537T>A , LRG_47:g.96537T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4257T>A
ENST00000695970.1:c.3055T>A	ENSP00000512297.1:p.Cys1019Ser
ENST00000695971.1:c.3208T>A	ENSP00000512298.1:p.Cys1070Ser
ENST00000695972.1:c.*306T>A	ENSP00000512299.1:n.*306T>A
ENST00000695973.1:c.*1593T>A	ENSP00000512300.1:n.*1593T>A
ENST00000695974.1:c.3052T>A	ENSP00000512301.1:p.Cys1018Ser
ENST00000695975.1:c.*1356T>A	ENSP00000512302.1:n.*1356T>A
ENST00000695976.1:c.3040T>A	ENSP00000512303.1:p.Cys1014Ser
ENST00000695981.1:c.3229T>A	ENSP00000512306.1:p.Cys1077Ser
ENST00000695984.1:c.1237T>A	ENSP00000512309.1:p.Cys413Ser
ENST00000695986.1:c.*2880T>A	ENSP00000512311.1:n.*2880T>A
ENST00000696026.1:c.*1511T>A	ENSP00000512335.1:n.*1511T>A
ENST00000696027.1:c.3223T>A	ENSP00000512336.1:p.Cys1075Ser
ENST00000696028.1:c.3157T>A	ENSP00000512337.1:p.Cys1053Ser
ENST00000696029.1:c.3223T>A	ENSP00000512338.1:p.Cys1075Ser
ENST00000696031.1:c.*2747T>A	ENSP00000512340.1:n.*2747T>A
ENST00000696032.1:c.3229T>A	ENSP00000512341.1:p.Cys1077Ser
ENST00000696033.1:c.1160-36250T>A	ENSP00000512342.1:n.1160-36250T>A
ENST00000367429.9:c.3229T>A MANE Select	ENSP00000356399.4:p.Cys1077Ser
ENST00000367429.8:c.3229T>A	ENSP00000356399.4:p.Cys1077Ser
ENST00000466229.5:n.6327T>A
NM_000186.3:c.3229T>A , LRG_47t1:c.3229T>A	NP_000177.2:p.Cys1077Ser
XR_001737134.2:n.3415T>A
NM_000186.4:c.3229T>A MANE Select	NP_000177.2:p.Cys1077Ser