Canonical Allele Identifier: CA343987742

Gene: CFH

Linked Data

• MyVariant Identifiers: chr1:g.196716323A>T (hg19) ; chr1:g.196747193A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747193A>T , CM000663.2:g.196747193A>T	GRCh38
NC_000001.10:g.196716323A>T , CM000663.1:g.196716323A>T	GRCh37
NC_000001.9:g.194982946A>T	NCBI36
NG_007259.1:g.100183A>T , LRG_47:g.100183A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000470918.2:n.4604A>T
ENST00000695970.1:c.3402A>T	ENSP00000512297.1:p.Arg1134Ser
ENST00000695971.1:c.3555A>T	ENSP00000512298.1:p.Arg1185Ser
ENST00000695972.1:c.*653A>T	ENSP00000512299.1:n.*653A>T
ENST00000695973.1:c.*1940A>T	ENSP00000512300.1:n.*1940A>T
ENST00000695974.1:c.3399A>T	ENSP00000512301.1:p.Arg1133Ser
ENST00000695975.1:c.*1703A>T	ENSP00000512302.1:n.*1703A>T
ENST00000695976.1:c.3387A>T	ENSP00000512303.1:p.Arg1129Ser
ENST00000695981.1:c.3576A>T	ENSP00000512306.1:p.Arg1192Ser
ENST00000695984.1:c.1584A>T	ENSP00000512309.1:p.Arg528Ser
ENST00000695986.1:c.*3227A>T	ENSP00000512311.1:n.*3227A>T
ENST00000695990.1:n.610A>T
ENST00000696026.1:c.*1858A>T	ENSP00000512335.1:n.*1858A>T
ENST00000696027.1:c.3570A>T	ENSP00000512336.1:p.Arg1190Ser
ENST00000696028.1:c.3504A>T	ENSP00000512337.1:p.Arg1168Ser
ENST00000696029.1:c.3570A>T	ENSP00000512338.1:p.Arg1190Ser
ENST00000696031.1:c.*3094A>T	ENSP00000512340.1:n.*3094A>T
ENST00000696032.1:c.3576A>T	ENSP00000512341.1:p.Arg1192Ser
ENST00000696033.1:c.1160-32604A>T	ENSP00000512342.1:n.1160-32604A>T
ENST00000367429.9:c.3576A>T MANE Select	ENSP00000356399.4:p.Arg1192Ser
ENST00000367429.8:c.3576A>T	ENSP00000356399.4:p.Arg1192Ser
ENST00000466229.5:n.6674A>T
NM_000186.3:c.3576A>T , LRG_47t1:c.3576A>T	NP_000177.2:p.Arg1192Ser
XR_001737134.2:n.3762A>T
NM_000186.4:c.3576A>T MANE Select	NP_000177.2:p.Arg1192Ser