Canonical Allele Identifier: CA343986978

Gene: CFH

Linked Data

• MyVariant Identifiers: chr1:g.196716249G>A (hg19) ; chr1:g.196747119G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747119G>A , CM000663.2:g.196747119G>A	GRCh38
NC_000001.10:g.196716249G>A , CM000663.1:g.196716249G>A	GRCh37
NC_000001.9:g.194982872G>A	NCBI36
NG_007259.1:g.100109G>A , LRG_47:g.100109G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000470918.2:n.4530G>A
ENST00000695970.1:c.3328G>A	ENSP00000512297.1:p.Val1110Ile
ENST00000695971.1:c.3481G>A	ENSP00000512298.1:p.Val1161Ile
ENST00000695972.1:c.*579G>A	ENSP00000512299.1:n.*579G>A
ENST00000695973.1:c.*1866G>A	ENSP00000512300.1:n.*1866G>A
ENST00000695974.1:c.3325G>A	ENSP00000512301.1:p.Val1109Ile
ENST00000695975.1:c.*1629G>A	ENSP00000512302.1:n.*1629G>A
ENST00000695976.1:c.3313G>A	ENSP00000512303.1:p.Val1105Ile
ENST00000695981.1:c.3502G>A	ENSP00000512306.1:p.Val1168Ile
ENST00000695984.1:c.1510G>A	ENSP00000512309.1:p.Val504Ile
ENST00000695986.1:c.*3153G>A	ENSP00000512311.1:n.*3153G>A
ENST00000695990.1:n.536G>A
ENST00000696026.1:c.*1784G>A	ENSP00000512335.1:n.*1784G>A
ENST00000696027.1:c.3496G>A	ENSP00000512336.1:p.Val1166Ile
ENST00000696028.1:c.3430G>A	ENSP00000512337.1:p.Val1144Ile
ENST00000696029.1:c.3496G>A	ENSP00000512338.1:p.Val1166Ile
ENST00000696031.1:c.*3020G>A	ENSP00000512340.1:n.*3020G>A
ENST00000696032.1:c.3502G>A	ENSP00000512341.1:p.Val1168Ile
ENST00000696033.1:c.1160-32678G>A	ENSP00000512342.1:n.1160-32678G>A
ENST00000367429.9:c.3502G>A MANE Select	ENSP00000356399.4:p.Val1168Ile
ENST00000367429.8:c.3502G>A	ENSP00000356399.4:p.Val1168Ile
ENST00000466229.5:n.6600G>A
NM_000186.3:c.3502G>A , LRG_47t1:c.3502G>A	NP_000177.2:p.Val1168Ile
XR_001737134.2:n.3688G>A
NM_000186.4:c.3502G>A MANE Select	NP_000177.2:p.Val1168Ile