Canonical Allele Identifier: CA1305984

Gene: CFH

Linked Data

• dbSNP Id: rs770830764
• ExAC: 1:196716336 G / A
• gnomAD v2: 1-196716336-G-A
• gnomAD v3: 1-196747206-G-A
• gnomAD v4: 1-196747206-G-A
• MyVariant Identifiers: chr1:g.196716336G>A (hg19) ; chr1:g.196747206G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747206G>A , CM000663.2:g.196747206G>A	GRCh38
NC_000001.10:g.196716336G>A , CM000663.1:g.196716336G>A	GRCh37
NC_000001.9:g.194982959G>A	NCBI36
NG_007259.1:g.100196G>A , LRG_47:g.100196G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4617G>A
ENST00000695970.1:c.3415G>A	ENSP00000512297.1:p.Val1139Ile
ENST00000695971.1:c.3568G>A	ENSP00000512298.1:p.Val1190Ile
ENST00000695972.1:c.*666G>A	ENSP00000512299.1:n.*666G>A
ENST00000695973.1:c.*1953G>A	ENSP00000512300.1:n.*1953G>A
ENST00000695974.1:c.3412G>A	ENSP00000512301.1:p.Val1138Ile
ENST00000695975.1:c.*1716G>A	ENSP00000512302.1:n.*1716G>A
ENST00000695976.1:c.3400G>A	ENSP00000512303.1:p.Val1134Ile
ENST00000695981.1:c.3580+9G>A	ENSP00000512306.1:n.3580+9G>A
ENST00000695984.1:c.1597G>A	ENSP00000512309.1:p.Val533Ile
ENST00000695986.1:c.*3240G>A	ENSP00000512311.1:n.*3240G>A
ENST00000695990.1:n.623G>A
ENST00000696026.1:c.*1871G>A	ENSP00000512335.1:n.*1871G>A
ENST00000696027.1:c.3583G>A	ENSP00000512336.1:p.Val1195Ile
ENST00000696028.1:c.3517G>A	ENSP00000512337.1:p.Val1173Ile
ENST00000696029.1:c.3583G>A	ENSP00000512338.1:p.Val1195Ile
ENST00000696031.1:c.*3107G>A	ENSP00000512340.1:n.*3107G>A
ENST00000696032.1:c.3580+9G>A	ENSP00000512341.1:n.3580+9G>A
ENST00000696033.1:c.1160-32591G>A	ENSP00000512342.1:n.1160-32591G>A
ENST00000367429.9:c.3589G>A MANE Select	ENSP00000356399.4:p.Val1197Ile
ENST00000367429.8:c.3589G>A	ENSP00000356399.4:p.Val1197Ile
ENST00000466229.5:n.6687G>A
NM_000186.3:c.3589G>A , LRG_47t1:c.3589G>A	NP_000177.2:p.Val1197Ile
XR_001737134.2:n.3775G>A
NM_000186.4:c.3589G>A MANE Select	NP_000177.2:p.Val1197Ile