Canonical Allele Identifier: CA343983681

Gene: CFH

Linked Data

• MyVariant Identifiers: chr1:g.196712683A>T (hg19) ; chr1:g.196743553A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196743553A>T , CM000663.2:g.196743553A>T	GRCh38
NC_000001.10:g.196712683A>T , CM000663.1:g.196712683A>T	GRCh37
NC_000001.9:g.194979306A>T	NCBI36
NG_007259.1:g.96543A>T , LRG_47:g.96543A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000470918.2:n.4263A>T
ENST00000695970.1:c.3061A>T	ENSP00000512297.1:p.Ser1021Cys
ENST00000695971.1:c.3214A>T	ENSP00000512298.1:p.Ser1072Cys
ENST00000695972.1:c.*312A>T	ENSP00000512299.1:n.*312A>T
ENST00000695973.1:c.*1599A>T	ENSP00000512300.1:n.*1599A>T
ENST00000695974.1:c.3058A>T	ENSP00000512301.1:p.Ser1020Cys
ENST00000695975.1:c.*1362A>T	ENSP00000512302.1:n.*1362A>T
ENST00000695976.1:c.3046A>T	ENSP00000512303.1:p.Ser1016Cys
ENST00000695981.1:c.3235A>T	ENSP00000512306.1:p.Ser1079Cys
ENST00000695984.1:c.1243A>T	ENSP00000512309.1:p.Ser415Cys
ENST00000695986.1:c.*2886A>T	ENSP00000512311.1:n.*2886A>T
ENST00000696026.1:c.*1517A>T	ENSP00000512335.1:n.*1517A>T
ENST00000696027.1:c.3229A>T	ENSP00000512336.1:p.Ser1077Cys
ENST00000696028.1:c.3163A>T	ENSP00000512337.1:p.Ser1055Cys
ENST00000696029.1:c.3229A>T	ENSP00000512338.1:p.Ser1077Cys
ENST00000696031.1:c.*2753A>T	ENSP00000512340.1:n.*2753A>T
ENST00000696032.1:c.3235A>T	ENSP00000512341.1:p.Ser1079Cys
ENST00000696033.1:c.1160-36244A>T	ENSP00000512342.1:n.1160-36244A>T
ENST00000367429.9:c.3235A>T MANE Select	ENSP00000356399.4:p.Ser1079Cys
ENST00000367429.8:c.3235A>T	ENSP00000356399.4:p.Ser1079Cys
ENST00000466229.5:n.6333A>T
NM_000186.3:c.3235A>T , LRG_47t1:c.3235A>T	NP_000177.2:p.Ser1079Cys
XR_001737134.2:n.3421A>T
NM_000186.4:c.3235A>T MANE Select	NP_000177.2:p.Ser1079Cys