Canonical Allele Identifier: CA343981297

Gene: CFH

Linked Data

• MyVariant Identifiers: chr1:g.196709919A>G (hg19) ; chr1:g.196740789A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196740789A>G , CM000663.2:g.196740789A>G	GRCh38
NC_000001.10:g.196709919A>G , CM000663.1:g.196709919A>G	GRCh37
NC_000001.9:g.194976542A>G	NCBI36
NG_007259.1:g.93779A>G , LRG_47:g.93779A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000470918.2:n.3219A>G
ENST00000695970.1:c.2783-1086A>G	ENSP00000512297.1:n.2783-1086A>G
ENST00000695971.1:c.2932A>G	ENSP00000512298.1:p.Ile978Val
ENST00000695972.1:c.*30A>G	ENSP00000512299.1:n.*30A>G
ENST00000695973.1:c.*1317A>G	ENSP00000512300.1:n.*1317A>G
ENST00000695974.1:c.2776A>G	ENSP00000512301.1:p.Ile926Val
ENST00000695975.1:c.*1080A>G	ENSP00000512302.1:n.*1080A>G
ENST00000695976.1:c.2764A>G	ENSP00000512303.1:p.Ile922Val
ENST00000695981.1:c.2953A>G	ENSP00000512306.1:p.Ile985Val
ENST00000695983.1:c.2862+91A>G	ENSP00000512308.1:n.2862+91A>G
ENST00000695984.1:c.961A>G	ENSP00000512309.1:p.Ile321Val
ENST00000695986.1:c.*2604A>G	ENSP00000512311.1:n.*2604A>G
ENST00000696025.1:n.3037A>G
ENST00000696026.1:c.*1235A>G	ENSP00000512335.1:n.*1235A>G
ENST00000696027.1:c.2947A>G	ENSP00000512336.1:p.Ile983Val
ENST00000696028.1:c.2884+69A>G	ENSP00000512337.1:n.2884+69A>G
ENST00000696029.1:c.2953A>G	ENSP00000512338.1:p.Ile985Val
ENST00000696031.1:c.*2471A>G	ENSP00000512340.1:n.*2471A>G
ENST00000696032.1:c.2953A>G	ENSP00000512341.1:p.Ile985Val
ENST00000696033.1:c.1160-39008A>G	ENSP00000512342.1:n.1160-39008A>G
ENST00000367429.9:c.2953A>G MANE Select	ENSP00000356399.4:p.Ile985Val
ENST00000367429.8:c.2953A>G	ENSP00000356399.4:p.Ile985Val
ENST00000466229.5:n.4969A>G
ENST00000470918.1:n.456A>G
NM_000186.3:c.2953A>G , LRG_47t1:c.2953A>G	NP_000177.2:p.Ile985Val
XR_001737134.2:n.3139A>G
NM_000186.4:c.2953A>G MANE Select	NP_000177.2:p.Ile985Val