Canonical Allele Identifier: CA343983643

Gene: CFH

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4257T>G
ENST00000695970.1:c.3055T>G	ENSP00000512297.1:p.Cys1019Gly
ENST00000695971.1:c.3208T>G	ENSP00000512298.1:p.Cys1070Gly
ENST00000695972.1:c.*306T>G	ENSP00000512299.1:n.*306T>G
ENST00000695973.1:c.*1593T>G	ENSP00000512300.1:n.*1593T>G
ENST00000695974.1:c.3052T>G	ENSP00000512301.1:p.Cys1018Gly
ENST00000695975.1:c.*1356T>G	ENSP00000512302.1:n.*1356T>G
ENST00000695976.1:c.3040T>G	ENSP00000512303.1:p.Cys1014Gly
ENST00000695981.1:c.3229T>G	ENSP00000512306.1:p.Cys1077Gly
ENST00000695984.1:c.1237T>G	ENSP00000512309.1:p.Cys413Gly
ENST00000695986.1:c.*2880T>G	ENSP00000512311.1:n.*2880T>G
ENST00000696026.1:c.*1511T>G	ENSP00000512335.1:n.*1511T>G
ENST00000696027.1:c.3223T>G	ENSP00000512336.1:p.Cys1075Gly
ENST00000696028.1:c.3157T>G	ENSP00000512337.1:p.Cys1053Gly
ENST00000696029.1:c.3223T>G	ENSP00000512338.1:p.Cys1075Gly
ENST00000696031.1:c.*2747T>G	ENSP00000512340.1:n.*2747T>G
ENST00000696032.1:c.3229T>G	ENSP00000512341.1:p.Cys1077Gly
ENST00000696033.1:c.1160-36250T>G	ENSP00000512342.1:n.1160-36250T>G
ENST00000367429.9:c.3229T>G MANE Select	ENSP00000356399.4:p.Cys1077Gly
ENST00000367429.8:c.3229T>G	ENSP00000356399.4:p.Cys1077Gly
ENST00000466229.5:n.6327T>G
NM_000186.3:c.3229T>G , LRG_47t1:c.3229T>G	NP_000177.2:p.Cys1077Gly
XR_001737134.2:n.3415T>G
NM_000186.4:c.3229T>G MANE Select	NP_000177.2:p.Cys1077Gly