Canonical Allele Identifier: CA343988159

Gene: CFH

Linked Data

• COSMIC: COSM6123203
• MyVariant Identifiers: chr1:g.196716381C>T (hg19) ; chr1:g.196747251C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747251C>T , CM000663.2:g.196747251C>T	GRCh38
NC_000001.10:g.196716381C>T , CM000663.1:g.196716381C>T	GRCh37
NC_000001.9:g.194983004C>T	NCBI36
NG_007259.1:g.100241C>T , LRG_47:g.100241C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4662C>T
ENST00000695970.1:c.3460C>T	ENSP00000512297.1:p.His1154Tyr
ENST00000695971.1:c.3613C>T	ENSP00000512298.1:p.His1205Tyr
ENST00000695972.1:c.*711C>T	ENSP00000512299.1:n.*711C>T
ENST00000695973.1:c.*1998C>T	ENSP00000512300.1:n.*1998C>T
ENST00000695974.1:c.3457C>T	ENSP00000512301.1:p.His1153Tyr
ENST00000695975.1:c.*1761C>T	ENSP00000512302.1:n.*1761C>T
ENST00000695976.1:c.3445C>T	ENSP00000512303.1:p.His1149Tyr
ENST00000695981.1:c.3580+54C>T	ENSP00000512306.1:n.3580+54C>T
ENST00000695984.1:c.1642C>T	ENSP00000512309.1:p.His548Tyr
ENST00000695986.1:c.*3285C>T	ENSP00000512311.1:n.*3285C>T
ENST00000695990.1:n.668C>T
ENST00000696026.1:c.*1916C>T	ENSP00000512335.1:n.*1916C>T
ENST00000696027.1:c.3628C>T	ENSP00000512336.1:p.His1210Tyr
ENST00000696028.1:c.3562C>T	ENSP00000512337.1:p.His1188Tyr
ENST00000696029.1:c.3628C>T	ENSP00000512338.1:p.His1210Tyr
ENST00000696031.1:c.*3152C>T	ENSP00000512340.1:n.*3152C>T
ENST00000696032.1:c.3580+54C>T	ENSP00000512341.1:n.3580+54C>T
ENST00000696033.1:c.1160-32546C>T	ENSP00000512342.1:n.1160-32546C>T
ENST00000367429.9:c.3634C>T MANE Select	ENSP00000356399.4:p.His1212Tyr
ENST00000367429.8:c.3634C>T	ENSP00000356399.4:p.His1212Tyr
ENST00000466229.5:n.6732C>T
NM_000186.3:c.3634C>T , LRG_47t1:c.3634C>T	NP_000177.2:p.His1212Tyr
XR_001737134.2:n.3820C>T
NM_000186.4:c.3634C>T MANE Select	NP_000177.2:p.His1212Tyr