Canonical Allele Identifier: CA343981299

Gene: CFH

Linked Data

• MyVariant Identifiers: chr1:g.196709920T>A (hg19) ; chr1:g.196740790T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196740790T>A , CM000663.2:g.196740790T>A	GRCh38
NC_000001.10:g.196709920T>A , CM000663.1:g.196709920T>A	GRCh37
NC_000001.9:g.194976543T>A	NCBI36
NG_007259.1:g.93780T>A , LRG_47:g.93780T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000470918.2:n.3220T>A
ENST00000695970.1:c.2783-1085T>A	ENSP00000512297.1:n.2783-1085T>A
ENST00000695971.1:c.2933T>A	ENSP00000512298.1:p.Ile978Lys
ENST00000695972.1:c.*31T>A	ENSP00000512299.1:n.*31T>A
ENST00000695973.1:c.*1318T>A	ENSP00000512300.1:n.*1318T>A
ENST00000695974.1:c.2777T>A	ENSP00000512301.1:p.Ile926Lys
ENST00000695975.1:c.*1081T>A	ENSP00000512302.1:n.*1081T>A
ENST00000695976.1:c.2765T>A	ENSP00000512303.1:p.Ile922Lys
ENST00000695981.1:c.2954T>A	ENSP00000512306.1:p.Ile985Lys
ENST00000695983.1:c.2862+92T>A	ENSP00000512308.1:n.2862+92T>A
ENST00000695984.1:c.962T>A	ENSP00000512309.1:p.Ile321Lys
ENST00000695986.1:c.*2605T>A	ENSP00000512311.1:n.*2605T>A
ENST00000696025.1:n.3038T>A
ENST00000696026.1:c.*1236T>A	ENSP00000512335.1:n.*1236T>A
ENST00000696027.1:c.2948T>A	ENSP00000512336.1:p.Ile983Lys
ENST00000696028.1:c.2884+70T>A	ENSP00000512337.1:n.2884+70T>A
ENST00000696029.1:c.2954T>A	ENSP00000512338.1:p.Ile985Lys
ENST00000696031.1:c.*2472T>A	ENSP00000512340.1:n.*2472T>A
ENST00000696032.1:c.2954T>A	ENSP00000512341.1:p.Ile985Lys
ENST00000696033.1:c.1160-39007T>A	ENSP00000512342.1:n.1160-39007T>A
ENST00000367429.9:c.2954T>A MANE Select	ENSP00000356399.4:p.Ile985Lys
ENST00000367429.8:c.2954T>A	ENSP00000356399.4:p.Ile985Lys
ENST00000466229.5:n.4970T>A
ENST00000470918.1:n.457T>A
NM_000186.3:c.2954T>A , LRG_47t1:c.2954T>A	NP_000177.2:p.Ile985Lys
XR_001737134.2:n.3140T>A
NM_000186.4:c.2954T>A MANE Select	NP_000177.2:p.Ile985Lys