Canonical Allele Identifier: CA343981291

Gene: CFH

Linked Data

• MyVariant Identifiers: chr1:g.196709917G>T (hg19) ; chr1:g.196740787G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196740787G>T , CM000663.2:g.196740787G>T	GRCh38
NC_000001.10:g.196709917G>T , CM000663.1:g.196709917G>T	GRCh37
NC_000001.9:g.194976540G>T	NCBI36
NG_007259.1:g.93777G>T , LRG_47:g.93777G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000470918.2:n.3217G>T
ENST00000695970.1:c.2783-1088G>T	ENSP00000512297.1:n.2783-1088G>T
ENST00000695971.1:c.2930G>T	ENSP00000512298.1:p.Cys977Phe
ENST00000695972.1:c.*28G>T	ENSP00000512299.1:n.*28G>T
ENST00000695973.1:c.*1315G>T	ENSP00000512300.1:n.*1315G>T
ENST00000695974.1:c.2774G>T	ENSP00000512301.1:p.Cys925Phe
ENST00000695975.1:c.*1078G>T	ENSP00000512302.1:n.*1078G>T
ENST00000695976.1:c.2762G>T	ENSP00000512303.1:p.Cys921Phe
ENST00000695981.1:c.2951G>T	ENSP00000512306.1:p.Cys984Phe
ENST00000695983.1:c.2862+89G>T	ENSP00000512308.1:n.2862+89G>T
ENST00000695984.1:c.959G>T	ENSP00000512309.1:p.Cys320Phe
ENST00000695986.1:c.*2602G>T	ENSP00000512311.1:n.*2602G>T
ENST00000696025.1:n.3035G>T
ENST00000696026.1:c.*1233G>T	ENSP00000512335.1:n.*1233G>T
ENST00000696027.1:c.2945G>T	ENSP00000512336.1:p.Cys982Phe
ENST00000696028.1:c.2884+67G>T	ENSP00000512337.1:n.2884+67G>T
ENST00000696029.1:c.2951G>T	ENSP00000512338.1:p.Cys984Phe
ENST00000696031.1:c.*2469G>T	ENSP00000512340.1:n.*2469G>T
ENST00000696032.1:c.2951G>T	ENSP00000512341.1:p.Cys984Phe
ENST00000696033.1:c.1160-39010G>T	ENSP00000512342.1:n.1160-39010G>T
ENST00000367429.9:c.2951G>T MANE Select	ENSP00000356399.4:p.Cys984Phe
ENST00000367429.8:c.2951G>T	ENSP00000356399.4:p.Cys984Phe
ENST00000466229.5:n.4967G>T
ENST00000470918.1:n.454G>T
NM_000186.3:c.2951G>T , LRG_47t1:c.2951G>T	NP_000177.2:p.Cys984Phe
XR_001737134.2:n.3137G>T
NM_000186.4:c.2951G>T MANE Select	NP_000177.2:p.Cys984Phe