Canonical Allele Identifier: CA343989432

Gene: CFH

Linked Data

• MyVariant Identifiers: chr1:g.196716426A>C (hg19) ; chr1:g.196747296A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747296A>C , CM000663.2:g.196747296A>C	GRCh38
NC_000001.10:g.196716426A>C , CM000663.1:g.196716426A>C	GRCh37
NC_000001.9:g.194983049A>C	NCBI36
NG_007259.1:g.100286A>C , LRG_47:g.100286A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000470918.2:n.4707A>C
ENST00000695970.1:c.3505A>C	ENSP00000512297.1:p.Thr1169Pro
ENST00000695971.1:c.3658A>C	ENSP00000512298.1:p.Thr1220Pro
ENST00000695972.1:c.*756A>C	ENSP00000512299.1:n.*756A>C
ENST00000695973.1:c.*2043A>C	ENSP00000512300.1:n.*2043A>C
ENST00000695974.1:c.3502A>C	ENSP00000512301.1:p.Thr1168Pro
ENST00000695975.1:c.*1806A>C	ENSP00000512302.1:n.*1806A>C
ENST00000695976.1:c.3490A>C	ENSP00000512303.1:p.Thr1164Pro
ENST00000695981.1:c.3580+99A>C	ENSP00000512306.1:n.3580+99A>C
ENST00000695984.1:c.1687A>C	ENSP00000512309.1:p.Thr563Pro
ENST00000695986.1:c.*3330A>C	ENSP00000512311.1:n.*3330A>C
ENST00000695990.1:n.713A>C
ENST00000696026.1:c.*1961A>C	ENSP00000512335.1:n.*1961A>C
ENST00000696027.1:c.3673A>C	ENSP00000512336.1:p.Thr1225Pro
ENST00000696028.1:c.3607A>C	ENSP00000512337.1:p.Thr1203Pro
ENST00000696029.1:c.3673A>C	ENSP00000512338.1:p.Thr1225Pro
ENST00000696031.1:c.*3197A>C	ENSP00000512340.1:n.*3197A>C
ENST00000696032.1:c.3580+99A>C	ENSP00000512341.1:n.3580+99A>C
ENST00000696033.1:c.1160-32501A>C	ENSP00000512342.1:n.1160-32501A>C
ENST00000367429.9:c.3679A>C MANE Select	ENSP00000356399.4:p.Thr1227Pro
ENST00000367429.8:c.3679A>C	ENSP00000356399.4:p.Thr1227Pro
ENST00000466229.5:n.6777A>C
NM_000186.3:c.3679A>C , LRG_47t1:c.3679A>C	NP_000177.2:p.Thr1227Pro
XR_001737134.2:n.3865A>C
NM_000186.4:c.3679A>C MANE Select	NP_000177.2:p.Thr1227Pro