Canonical Allele Identifier: CA343987738

Gene: CFH

Linked Data

• MyVariant Identifiers: chr1:g.196716322G>T (hg19) ; chr1:g.196747192G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747192G>T , CM000663.2:g.196747192G>T	GRCh38
NC_000001.10:g.196716322G>T , CM000663.1:g.196716322G>T	GRCh37
NC_000001.9:g.194982945G>T	NCBI36
NG_007259.1:g.100182G>T , LRG_47:g.100182G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000470918.2:n.4603G>T
ENST00000695970.1:c.3401G>T	ENSP00000512297.1:p.Arg1134Ile
ENST00000695971.1:c.3554G>T	ENSP00000512298.1:p.Arg1185Ile
ENST00000695972.1:c.*652G>T	ENSP00000512299.1:n.*652G>T
ENST00000695973.1:c.*1939G>T	ENSP00000512300.1:n.*1939G>T
ENST00000695974.1:c.3398G>T	ENSP00000512301.1:p.Arg1133Ile
ENST00000695975.1:c.*1702G>T	ENSP00000512302.1:n.*1702G>T
ENST00000695976.1:c.3386G>T	ENSP00000512303.1:p.Arg1129Ile
ENST00000695981.1:c.3575G>T	ENSP00000512306.1:p.Arg1192Ile
ENST00000695984.1:c.1583G>T	ENSP00000512309.1:p.Arg528Ile
ENST00000695986.1:c.*3226G>T	ENSP00000512311.1:n.*3226G>T
ENST00000695990.1:n.609G>T
ENST00000696026.1:c.*1857G>T	ENSP00000512335.1:n.*1857G>T
ENST00000696027.1:c.3569G>T	ENSP00000512336.1:p.Arg1190Ile
ENST00000696028.1:c.3503G>T	ENSP00000512337.1:p.Arg1168Ile
ENST00000696029.1:c.3569G>T	ENSP00000512338.1:p.Arg1190Ile
ENST00000696031.1:c.*3093G>T	ENSP00000512340.1:n.*3093G>T
ENST00000696032.1:c.3575G>T	ENSP00000512341.1:p.Arg1192Ile
ENST00000696033.1:c.1160-32605G>T	ENSP00000512342.1:n.1160-32605G>T
ENST00000367429.9:c.3575G>T MANE Select	ENSP00000356399.4:p.Arg1192Ile
ENST00000367429.8:c.3575G>T	ENSP00000356399.4:p.Arg1192Ile
ENST00000466229.5:n.6673G>T
NM_000186.3:c.3575G>T , LRG_47t1:c.3575G>T	NP_000177.2:p.Arg1192Ile
XR_001737134.2:n.3761G>T
NM_000186.4:c.3575G>T MANE Select	NP_000177.2:p.Arg1192Ile