Canonical Allele Identifier: CA343981302

Gene: CFH

Linked Data

• dbSNP Id: rs1307458031
• MyVariant Identifiers: chr1:g.196709921A>G (hg19) ; chr1:g.196740791A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196740791A>G , CM000663.2:g.196740791A>G	GRCh38
NC_000001.10:g.196709921A>G , CM000663.1:g.196709921A>G	GRCh37
NC_000001.9:g.194976544A>G	NCBI36
NG_007259.1:g.93781A>G , LRG_47:g.93781A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000470918.2:n.3221A>G
ENST00000695970.1:c.2783-1084A>G	ENSP00000512297.1:n.2783-1084A>G
ENST00000695971.1:c.2934A>G	ENSP00000512298.1:p.Ile978Met
ENST00000695972.1:c.*32A>G	ENSP00000512299.1:n.*32A>G
ENST00000695973.1:c.*1319A>G	ENSP00000512300.1:n.*1319A>G
ENST00000695974.1:c.2778A>G	ENSP00000512301.1:p.Ile926Met
ENST00000695975.1:c.*1082A>G	ENSP00000512302.1:n.*1082A>G
ENST00000695976.1:c.2766A>G	ENSP00000512303.1:p.Ile922Met
ENST00000695981.1:c.2955A>G	ENSP00000512306.1:p.Ile985Met
ENST00000695983.1:c.2862+93A>G	ENSP00000512308.1:n.2862+93A>G
ENST00000695984.1:c.963A>G	ENSP00000512309.1:p.Ile321Met
ENST00000695986.1:c.*2606A>G	ENSP00000512311.1:n.*2606A>G
ENST00000696025.1:n.3039A>G
ENST00000696026.1:c.*1237A>G	ENSP00000512335.1:n.*1237A>G
ENST00000696027.1:c.2949A>G	ENSP00000512336.1:p.Ile983Met
ENST00000696028.1:c.2884+71A>G	ENSP00000512337.1:n.2884+71A>G
ENST00000696029.1:c.2955A>G	ENSP00000512338.1:p.Ile985Met
ENST00000696031.1:c.*2473A>G	ENSP00000512340.1:n.*2473A>G
ENST00000696032.1:c.2955A>G	ENSP00000512341.1:p.Ile985Met
ENST00000696033.1:c.1160-39006A>G	ENSP00000512342.1:n.1160-39006A>G
ENST00000367429.9:c.2955A>G MANE Select	ENSP00000356399.4:p.Ile985Met
ENST00000367429.8:c.2955A>G	ENSP00000356399.4:p.Ile985Met
ENST00000466229.5:n.4971A>G
ENST00000470918.1:n.458A>G
NM_000186.3:c.2955A>G , LRG_47t1:c.2955A>G	NP_000177.2:p.Ile985Met
XR_001737134.2:n.3141A>G
NM_000186.4:c.2955A>G MANE Select	NP_000177.2:p.Ile985Met