Canonical Allele Identifier: CA343983391

Gene: CFH

Linked Data

• MyVariant Identifiers: chr1:g.196712646A>T (hg19) ; chr1:g.196743516A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196743516A>T , CM000663.2:g.196743516A>T	GRCh38
NC_000001.10:g.196712646A>T , CM000663.1:g.196712646A>T	GRCh37
NC_000001.9:g.194979269A>T	NCBI36
NG_007259.1:g.96506A>T , LRG_47:g.96506A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4226A>T
ENST00000695970.1:c.3024A>T	ENSP00000512297.1:p.Lys1008Asn
ENST00000695971.1:c.3177A>T	ENSP00000512298.1:p.Lys1059Asn
ENST00000695972.1:c.*275A>T	ENSP00000512299.1:n.*275A>T
ENST00000695973.1:c.*1562A>T	ENSP00000512300.1:n.*1562A>T
ENST00000695974.1:c.3021A>T	ENSP00000512301.1:p.Lys1007Asn
ENST00000695975.1:c.*1325A>T	ENSP00000512302.1:n.*1325A>T
ENST00000695976.1:c.3009A>T	ENSP00000512303.1:p.Lys1003Asn
ENST00000695981.1:c.3198A>T	ENSP00000512306.1:p.Lys1066Asn
ENST00000695984.1:c.1206A>T	ENSP00000512309.1:p.Lys402Asn
ENST00000695986.1:c.*2849A>T	ENSP00000512311.1:n.*2849A>T
ENST00000696026.1:c.*1480A>T	ENSP00000512335.1:n.*1480A>T
ENST00000696027.1:c.3192A>T	ENSP00000512336.1:p.Lys1064Asn
ENST00000696028.1:c.3126A>T	ENSP00000512337.1:p.Lys1042Asn
ENST00000696029.1:c.3192A>T	ENSP00000512338.1:p.Lys1064Asn
ENST00000696031.1:c.*2716A>T	ENSP00000512340.1:n.*2716A>T
ENST00000696032.1:c.3198A>T	ENSP00000512341.1:p.Lys1066Asn
ENST00000696033.1:c.1160-36281A>T	ENSP00000512342.1:n.1160-36281A>T
ENST00000367429.9:c.3198A>T MANE Select	ENSP00000356399.4:p.Lys1066Asn
ENST00000367429.8:c.3198A>T	ENSP00000356399.4:p.Lys1066Asn
ENST00000466229.5:n.6296A>T
NM_000186.3:c.3198A>T , LRG_47t1:c.3198A>T	NP_000177.2:p.Lys1066Asn
XR_001737134.2:n.3384A>T
NM_000186.4:c.3198A>T MANE Select	NP_000177.2:p.Lys1066Asn