Canonical Allele Identifier: CA422663622

Gene: CFH

Linked Data

• gnomAD v4: 1-196747253-C-T
• MyVariant Identifiers: chr1:g.196716383C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747253C>T , CM000663.2:g.196747253C>T	GRCh38
NC_000001.10:g.196716383C>T , CM000663.1:g.196716383C>T	GRCh37
NC_000001.9:g.194983006C>T	NCBI36
NG_007259.1:g.100243C>T , LRG_47:g.100243C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4664C>T
ENST00000695970.1:c.3462C>T	ENSP00000512297.1:p.His1154=
ENST00000695971.1:c.3615C>T	ENSP00000512298.1:p.His1205=
ENST00000695972.1:c.*713C>T	ENSP00000512299.1:n.*713C>T
ENST00000695973.1:c.*2000C>T	ENSP00000512300.1:n.*2000C>T
ENST00000695974.1:c.3459C>T	ENSP00000512301.1:p.His1153=
ENST00000695975.1:c.*1763C>T	ENSP00000512302.1:n.*1763C>T
ENST00000695976.1:c.3447C>T	ENSP00000512303.1:p.His1149=
ENST00000695981.1:c.3580+56C>T	ENSP00000512306.1:n.3580+56C>T
ENST00000695984.1:c.1644C>T	ENSP00000512309.1:p.His548=
ENST00000695986.1:c.*3287C>T	ENSP00000512311.1:n.*3287C>T
ENST00000695990.1:n.670C>T
ENST00000696026.1:c.*1918C>T	ENSP00000512335.1:n.*1918C>T
ENST00000696027.1:c.3630C>T	ENSP00000512336.1:p.His1210=
ENST00000696028.1:c.3564C>T	ENSP00000512337.1:p.His1188=
ENST00000696029.1:c.3630C>T	ENSP00000512338.1:p.His1210=
ENST00000696031.1:c.*3154C>T	ENSP00000512340.1:n.*3154C>T
ENST00000696032.1:c.3580+56C>T	ENSP00000512341.1:n.3580+56C>T
ENST00000696033.1:c.1160-32544C>T	ENSP00000512342.1:n.1160-32544C>T
ENST00000367429.9:c.3636C>T MANE Select	ENSP00000356399.4:p.His1212=
ENST00000367429.8:c.3636C>T	ENSP00000356399.4:p.His1212=
ENST00000466229.5:n.6734C>T
NM_000186.3:c.3636C>T , LRG_47t1:c.3636C>T	NP_000177.2:p.His1212=
XR_001737134.2:n.3822C>T
NM_000186.4:c.3636C>T MANE Select	NP_000177.2:p.His1212=