Canonical Allele Identifier: CA422663816

Gene: CFH

Linked Data

• MyVariant Identifiers: chr1:g.196716395A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747265A>C , CM000663.2:g.196747265A>C	GRCh38
NC_000001.10:g.196716395A>C , CM000663.1:g.196716395A>C	GRCh37
NC_000001.9:g.194983018A>C	NCBI36
NG_007259.1:g.100255A>C , LRG_47:g.100255A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000470918.2:n.4676A>C
ENST00000695970.1:c.3474A>C	ENSP00000512297.1:p.Thr1158=
ENST00000695971.1:c.3627A>C	ENSP00000512298.1:p.Thr1209=
ENST00000695972.1:c.*725A>C	ENSP00000512299.1:n.*725A>C
ENST00000695973.1:c.*2012A>C	ENSP00000512300.1:n.*2012A>C
ENST00000695974.1:c.3471A>C	ENSP00000512301.1:p.Thr1157=
ENST00000695975.1:c.*1775A>C	ENSP00000512302.1:n.*1775A>C
ENST00000695976.1:c.3459A>C	ENSP00000512303.1:p.Thr1153=
ENST00000695981.1:c.3580+68A>C	ENSP00000512306.1:n.3580+68A>C
ENST00000695984.1:c.1656A>C	ENSP00000512309.1:p.Thr552=
ENST00000695986.1:c.*3299A>C	ENSP00000512311.1:n.*3299A>C
ENST00000695990.1:n.682A>C
ENST00000696026.1:c.*1930A>C	ENSP00000512335.1:n.*1930A>C
ENST00000696027.1:c.3642A>C	ENSP00000512336.1:p.Thr1214=
ENST00000696028.1:c.3576A>C	ENSP00000512337.1:p.Thr1192=
ENST00000696029.1:c.3642A>C	ENSP00000512338.1:p.Thr1214=
ENST00000696031.1:c.*3166A>C	ENSP00000512340.1:n.*3166A>C
ENST00000696032.1:c.3580+68A>C	ENSP00000512341.1:n.3580+68A>C
ENST00000696033.1:c.1160-32532A>C	ENSP00000512342.1:n.1160-32532A>C
ENST00000367429.9:c.3648A>C MANE Select	ENSP00000356399.4:p.Thr1216=
ENST00000367429.8:c.3648A>C	ENSP00000356399.4:p.Thr1216=
ENST00000466229.5:n.6746A>C
NM_000186.3:c.3648A>C , LRG_47t1:c.3648A>C	NP_000177.2:p.Thr1216=
XR_001737134.2:n.3834A>C
NM_000186.4:c.3648A>C MANE Select	NP_000177.2:p.Thr1216=