Canonical Allele Identifier: CA343987404

Gene: CFH

Linked Data

• MyVariant Identifiers: chr1:g.196716294T>C (hg19) ; chr1:g.196747164T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747164T>C , CM000663.2:g.196747164T>C	GRCh38
NC_000001.10:g.196716294T>C , CM000663.1:g.196716294T>C	GRCh37
NC_000001.9:g.194982917T>C	NCBI36
NG_007259.1:g.100154T>C , LRG_47:g.100154T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000470918.2:n.4575T>C
ENST00000695970.1:c.3373T>C	ENSP00000512297.1:p.Trp1125Arg
ENST00000695971.1:c.3526T>C	ENSP00000512298.1:p.Trp1176Arg
ENST00000695972.1:c.*624T>C	ENSP00000512299.1:n.*624T>C
ENST00000695973.1:c.*1911T>C	ENSP00000512300.1:n.*1911T>C
ENST00000695974.1:c.3370T>C	ENSP00000512301.1:p.Trp1124Arg
ENST00000695975.1:c.*1674T>C	ENSP00000512302.1:n.*1674T>C
ENST00000695976.1:c.3358T>C	ENSP00000512303.1:p.Trp1120Arg
ENST00000695981.1:c.3547T>C	ENSP00000512306.1:p.Trp1183Arg
ENST00000695984.1:c.1555T>C	ENSP00000512309.1:p.Trp519Arg
ENST00000695986.1:c.*3198T>C	ENSP00000512311.1:n.*3198T>C
ENST00000695990.1:n.581T>C
ENST00000696026.1:c.*1829T>C	ENSP00000512335.1:n.*1829T>C
ENST00000696027.1:c.3541T>C	ENSP00000512336.1:p.Trp1181Arg
ENST00000696028.1:c.3475T>C	ENSP00000512337.1:p.Trp1159Arg
ENST00000696029.1:c.3541T>C	ENSP00000512338.1:p.Trp1181Arg
ENST00000696031.1:c.*3065T>C	ENSP00000512340.1:n.*3065T>C
ENST00000696032.1:c.3547T>C	ENSP00000512341.1:p.Trp1183Arg
ENST00000696033.1:c.1160-32633T>C	ENSP00000512342.1:n.1160-32633T>C
ENST00000367429.9:c.3547T>C MANE Select	ENSP00000356399.4:p.Trp1183Arg
ENST00000367429.8:c.3547T>C	ENSP00000356399.4:p.Trp1183Arg
ENST00000466229.5:n.6645T>C
NM_000186.3:c.3547T>C , LRG_47t1:c.3547T>C	NP_000177.2:p.Trp1183Arg
XR_001737134.2:n.3733T>C
NM_000186.4:c.3547T>C MANE Select	NP_000177.2:p.Trp1183Arg