Canonical Allele Identifier: CA343987802

Gene: CFH

Linked Data

• MyVariant Identifiers: chr1:g.196716330G>T (hg19) ; chr1:g.196747200G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747200G>T , CM000663.2:g.196747200G>T	GRCh38
NC_000001.10:g.196716330G>T , CM000663.1:g.196716330G>T	GRCh37
NC_000001.9:g.194982953G>T	NCBI36
NG_007259.1:g.100190G>T , LRG_47:g.100190G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000470918.2:n.4611G>T
ENST00000695970.1:c.3409G>T	ENSP00000512297.1:p.Glu1137Ter
ENST00000695971.1:c.3562G>T	ENSP00000512298.1:p.Glu1188Ter
ENST00000695972.1:c.*660G>T	ENSP00000512299.1:n.*660G>T
ENST00000695973.1:c.*1947G>T	ENSP00000512300.1:n.*1947G>T
ENST00000695974.1:c.3406G>T	ENSP00000512301.1:p.Glu1136Ter
ENST00000695975.1:c.*1710G>T	ENSP00000512302.1:n.*1710G>T
ENST00000695976.1:c.3394G>T	ENSP00000512303.1:p.Glu1132Ter
ENST00000695981.1:c.3580+3G>T	ENSP00000512306.1:n.3580+3G>T
ENST00000695984.1:c.1591G>T	ENSP00000512309.1:p.Glu531Ter
ENST00000695986.1:c.*3234G>T	ENSP00000512311.1:n.*3234G>T
ENST00000695990.1:n.617G>T
ENST00000696026.1:c.*1865G>T	ENSP00000512335.1:n.*1865G>T
ENST00000696027.1:c.3577G>T	ENSP00000512336.1:p.Glu1193Ter
ENST00000696028.1:c.3511G>T	ENSP00000512337.1:p.Glu1171Ter
ENST00000696029.1:c.3577G>T	ENSP00000512338.1:p.Glu1193Ter
ENST00000696031.1:c.*3101G>T	ENSP00000512340.1:n.*3101G>T
ENST00000696032.1:c.3580+3G>T	ENSP00000512341.1:n.3580+3G>T
ENST00000696033.1:c.1160-32597G>T	ENSP00000512342.1:n.1160-32597G>T
ENST00000367429.9:c.3583G>T MANE Select	ENSP00000356399.4:p.Glu1195Ter
ENST00000367429.8:c.3583G>T	ENSP00000356399.4:p.Glu1195Ter
ENST00000466229.5:n.6681G>T
NM_000186.3:c.3583G>T , LRG_47t1:c.3583G>T	NP_000177.2:p.Glu1195Ter
XR_001737134.2:n.3769G>T
NM_000186.4:c.3583G>T MANE Select	NP_000177.2:p.Glu1195Ter