Canonical Allele Identifier: CA343987055

Gene: CFH

Linked Data

• gnomAD v4: 1-196747132-A-T
• MyVariant Identifiers: chr1:g.196716262A>T (hg19) ; chr1:g.196747132A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747132A>T , CM000663.2:g.196747132A>T	GRCh38
NC_000001.10:g.196716262A>T , CM000663.1:g.196716262A>T	GRCh37
NC_000001.9:g.194982885A>T	NCBI36
NG_007259.1:g.100122A>T , LRG_47:g.100122A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4543A>T
ENST00000695970.1:c.3341A>T	ENSP00000512297.1:p.Glu1114Val
ENST00000695971.1:c.3494A>T	ENSP00000512298.1:p.Glu1165Val
ENST00000695972.1:c.*592A>T	ENSP00000512299.1:n.*592A>T
ENST00000695973.1:c.*1879A>T	ENSP00000512300.1:n.*1879A>T
ENST00000695974.1:c.3338A>T	ENSP00000512301.1:p.Glu1113Val
ENST00000695975.1:c.*1642A>T	ENSP00000512302.1:n.*1642A>T
ENST00000695976.1:c.3326A>T	ENSP00000512303.1:p.Glu1109Val
ENST00000695981.1:c.3515A>T	ENSP00000512306.1:p.Glu1172Val
ENST00000695984.1:c.1523A>T	ENSP00000512309.1:p.Glu508Val
ENST00000695986.1:c.*3166A>T	ENSP00000512311.1:n.*3166A>T
ENST00000695990.1:n.549A>T
ENST00000696026.1:c.*1797A>T	ENSP00000512335.1:n.*1797A>T
ENST00000696027.1:c.3509A>T	ENSP00000512336.1:p.Glu1170Val
ENST00000696028.1:c.3443A>T	ENSP00000512337.1:p.Glu1148Val
ENST00000696029.1:c.3509A>T	ENSP00000512338.1:p.Glu1170Val
ENST00000696031.1:c.*3033A>T	ENSP00000512340.1:n.*3033A>T
ENST00000696032.1:c.3515A>T	ENSP00000512341.1:p.Glu1172Val
ENST00000696033.1:c.1160-32665A>T	ENSP00000512342.1:n.1160-32665A>T
ENST00000367429.9:c.3515A>T MANE Select	ENSP00000356399.4:p.Glu1172Val
ENST00000367429.8:c.3515A>T	ENSP00000356399.4:p.Glu1172Val
ENST00000466229.5:n.6613A>T
NM_000186.3:c.3515A>T , LRG_47t1:c.3515A>T	NP_000177.2:p.Glu1172Val
XR_001737134.2:n.3701A>T
NM_000186.4:c.3515A>T MANE Select	NP_000177.2:p.Glu1172Val