Canonical Allele Identifier: CA343983115

Gene: CFH

Linked Data

• MyVariant Identifiers: chr1:g.196712614A>T (hg19) ; chr1:g.196743484A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196743484A>T , CM000663.2:g.196743484A>T	GRCh38
NC_000001.10:g.196712614A>T , CM000663.1:g.196712614A>T	GRCh37
NC_000001.9:g.194979237A>T	NCBI36
NG_007259.1:g.96474A>T , LRG_47:g.96474A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4194A>T
ENST00000695970.1:c.2992A>T	ENSP00000512297.1:p.Asn998Tyr
ENST00000695971.1:c.3145A>T	ENSP00000512298.1:p.Asn1049Tyr
ENST00000695972.1:c.*243A>T	ENSP00000512299.1:n.*243A>T
ENST00000695973.1:c.*1530A>T	ENSP00000512300.1:n.*1530A>T
ENST00000695974.1:c.2989A>T	ENSP00000512301.1:p.Asn997Tyr
ENST00000695975.1:c.*1293A>T	ENSP00000512302.1:n.*1293A>T
ENST00000695976.1:c.2977A>T	ENSP00000512303.1:p.Asn993Tyr
ENST00000695981.1:c.3166A>T	ENSP00000512306.1:p.Asn1056Tyr
ENST00000695984.1:c.1174A>T	ENSP00000512309.1:p.Asn392Tyr
ENST00000695986.1:c.*2817A>T	ENSP00000512311.1:n.*2817A>T
ENST00000696026.1:c.*1448A>T	ENSP00000512335.1:n.*1448A>T
ENST00000696027.1:c.3160A>T	ENSP00000512336.1:p.Asn1054Tyr
ENST00000696028.1:c.3094A>T	ENSP00000512337.1:p.Asn1032Tyr
ENST00000696029.1:c.3160A>T	ENSP00000512338.1:p.Asn1054Tyr
ENST00000696031.1:c.*2684A>T	ENSP00000512340.1:n.*2684A>T
ENST00000696032.1:c.3166A>T	ENSP00000512341.1:p.Asn1056Tyr
ENST00000696033.1:c.1160-36313A>T	ENSP00000512342.1:n.1160-36313A>T
ENST00000367429.9:c.3166A>T MANE Select	ENSP00000356399.4:p.Asn1056Tyr
ENST00000367429.8:c.3166A>T	ENSP00000356399.4:p.Asn1056Tyr
ENST00000466229.5:n.6264A>T
NM_000186.3:c.3166A>T , LRG_47t1:c.3166A>T	NP_000177.2:p.Asn1056Tyr
XR_001737134.2:n.3352A>T
NM_000186.4:c.3166A>T MANE Select	NP_000177.2:p.Asn1056Tyr