Canonical Allele Identifier: CA343983895

Gene: CFH

Linked Data

• MyVariant Identifiers: chr1:g.196712710G>T (hg19) ; chr1:g.196743580G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196743580G>T , CM000663.2:g.196743580G>T	GRCh38
NC_000001.10:g.196712710G>T , CM000663.1:g.196712710G>T	GRCh37
NC_000001.9:g.194979333G>T	NCBI36
NG_007259.1:g.96570G>T , LRG_47:g.96570G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4290G>T
ENST00000695970.1:c.3088G>T	ENSP00000512297.1:p.Glu1030Ter
ENST00000695971.1:c.3241G>T	ENSP00000512298.1:p.Glu1081Ter
ENST00000695972.1:c.*339G>T	ENSP00000512299.1:n.*339G>T
ENST00000695973.1:c.*1626G>T	ENSP00000512300.1:n.*1626G>T
ENST00000695974.1:c.3085G>T	ENSP00000512301.1:p.Glu1029Ter
ENST00000695975.1:c.*1389G>T	ENSP00000512302.1:n.*1389G>T
ENST00000695976.1:c.3073G>T	ENSP00000512303.1:p.Glu1025Ter
ENST00000695981.1:c.3262G>T	ENSP00000512306.1:p.Glu1088Ter
ENST00000695984.1:c.1270G>T	ENSP00000512309.1:p.Glu424Ter
ENST00000695986.1:c.*2913G>T	ENSP00000512311.1:n.*2913G>T
ENST00000696026.1:c.*1544G>T	ENSP00000512335.1:n.*1544G>T
ENST00000696027.1:c.3256G>T	ENSP00000512336.1:p.Glu1086Ter
ENST00000696028.1:c.3190G>T	ENSP00000512337.1:p.Glu1064Ter
ENST00000696029.1:c.3256G>T	ENSP00000512338.1:p.Glu1086Ter
ENST00000696031.1:c.*2780G>T	ENSP00000512340.1:n.*2780G>T
ENST00000696032.1:c.3262G>T	ENSP00000512341.1:p.Glu1088Ter
ENST00000696033.1:c.1160-36217G>T	ENSP00000512342.1:n.1160-36217G>T
ENST00000367429.9:c.3262G>T MANE Select	ENSP00000356399.4:p.Glu1088Ter
ENST00000367429.8:c.3262G>T	ENSP00000356399.4:p.Glu1088Ter
ENST00000466229.5:n.6360G>T
NM_000186.3:c.3262G>T , LRG_47t1:c.3262G>T	NP_000177.2:p.Glu1088Ter
XR_001737134.2:n.3448G>T
NM_000186.4:c.3262G>T MANE Select	NP_000177.2:p.Glu1088Ter