Canonical Allele Identifier: CA343987086

Gene: CFH

Linked Data

• COSMIC: COSM5501702
• MyVariant Identifiers: chr1:g.196716265T>A (hg19) ; chr1:g.196747135T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747135T>A , CM000663.2:g.196747135T>A	GRCh38
NC_000001.10:g.196716265T>A , CM000663.1:g.196716265T>A	GRCh37
NC_000001.9:g.194982888T>A	NCBI36
NG_007259.1:g.100125T>A , LRG_47:g.100125T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4546T>A
ENST00000695970.1:c.3344T>A	ENSP00000512297.1:p.Ile1115Asn
ENST00000695971.1:c.3497T>A	ENSP00000512298.1:p.Ile1166Asn
ENST00000695972.1:c.*595T>A	ENSP00000512299.1:n.*595T>A
ENST00000695973.1:c.*1882T>A	ENSP00000512300.1:n.*1882T>A
ENST00000695974.1:c.3341T>A	ENSP00000512301.1:p.Ile1114Asn
ENST00000695975.1:c.*1645T>A	ENSP00000512302.1:n.*1645T>A
ENST00000695976.1:c.3329T>A	ENSP00000512303.1:p.Ile1110Asn
ENST00000695981.1:c.3518T>A	ENSP00000512306.1:p.Ile1173Asn
ENST00000695984.1:c.1526T>A	ENSP00000512309.1:p.Ile509Asn
ENST00000695986.1:c.*3169T>A	ENSP00000512311.1:n.*3169T>A
ENST00000695990.1:n.552T>A
ENST00000696026.1:c.*1800T>A	ENSP00000512335.1:n.*1800T>A
ENST00000696027.1:c.3512T>A	ENSP00000512336.1:p.Ile1171Asn
ENST00000696028.1:c.3446T>A	ENSP00000512337.1:p.Ile1149Asn
ENST00000696029.1:c.3512T>A	ENSP00000512338.1:p.Ile1171Asn
ENST00000696031.1:c.*3036T>A	ENSP00000512340.1:n.*3036T>A
ENST00000696032.1:c.3518T>A	ENSP00000512341.1:p.Ile1173Asn
ENST00000696033.1:c.1160-32662T>A	ENSP00000512342.1:n.1160-32662T>A
ENST00000367429.9:c.3518T>A MANE Select	ENSP00000356399.4:p.Ile1173Asn
ENST00000367429.8:c.3518T>A	ENSP00000356399.4:p.Ile1173Asn
ENST00000466229.5:n.6616T>A
NM_000186.3:c.3518T>A , LRG_47t1:c.3518T>A	NP_000177.2:p.Ile1173Asn
XR_001737134.2:n.3704T>A
NM_000186.4:c.3518T>A MANE Select	NP_000177.2:p.Ile1173Asn