Canonical Allele Identifier: CA1305992

Gene: CFH

Linked Data

• dbSNP Id: rs756845929
• ExAC: 1:196716374 A / T
• MyVariant Identifiers: chr1:g.196716374A>T (hg19) ; chr1:g.196747244A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747244A>T , CM000663.2:g.196747244A>T	GRCh38
NC_000001.10:g.196716374A>T , CM000663.1:g.196716374A>T	GRCh37
NC_000001.9:g.194982997A>T	NCBI36
NG_007259.1:g.100234A>T , LRG_47:g.100234A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4655A>T
ENST00000695970.1:c.3453A>T	ENSP00000512297.1:p.Ser1151=
ENST00000695971.1:c.3606A>T	ENSP00000512298.1:p.Ser1202=
ENST00000695972.1:c.*704A>T	ENSP00000512299.1:n.*704A>T
ENST00000695973.1:c.*1991A>T	ENSP00000512300.1:n.*1991A>T
ENST00000695974.1:c.3450A>T	ENSP00000512301.1:p.Ser1150=
ENST00000695975.1:c.*1754A>T	ENSP00000512302.1:n.*1754A>T
ENST00000695976.1:c.3438A>T	ENSP00000512303.1:p.Ser1146=
ENST00000695981.1:c.3580+47A>T	ENSP00000512306.1:n.3580+47A>T
ENST00000695984.1:c.1635A>T	ENSP00000512309.1:p.Ser545=
ENST00000695986.1:c.*3278A>T	ENSP00000512311.1:n.*3278A>T
ENST00000695990.1:n.661A>T
ENST00000696026.1:c.*1909A>T	ENSP00000512335.1:n.*1909A>T
ENST00000696027.1:c.3621A>T	ENSP00000512336.1:p.Ser1207=
ENST00000696028.1:c.3555A>T	ENSP00000512337.1:p.Ser1185=
ENST00000696029.1:c.3621A>T	ENSP00000512338.1:p.Ser1207=
ENST00000696031.1:c.*3145A>T	ENSP00000512340.1:n.*3145A>T
ENST00000696032.1:c.3580+47A>T	ENSP00000512341.1:n.3580+47A>T
ENST00000696033.1:c.1160-32553A>T	ENSP00000512342.1:n.1160-32553A>T
ENST00000367429.9:c.3627A>T MANE Select	ENSP00000356399.4:p.Ser1209=
ENST00000367429.8:c.3627A>T	ENSP00000356399.4:p.Ser1209=
ENST00000466229.5:n.6725A>T
NM_000186.3:c.3627A>T , LRG_47t1:c.3627A>T	NP_000177.2:p.Ser1209=
XR_001737134.2:n.3813A>T
NM_000186.4:c.3627A>T MANE Select	NP_000177.2:p.Ser1209=