Canonical Allele Identifier: CA343983582

Gene: CFH

Linked Data

• MyVariant Identifiers: chr1:g.196712671T>A (hg19) ; chr1:g.196743541T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196743541T>A , CM000663.2:g.196743541T>A	GRCh38
NC_000001.10:g.196712671T>A , CM000663.1:g.196712671T>A	GRCh37
NC_000001.9:g.194979294T>A	NCBI36
NG_007259.1:g.96531T>A , LRG_47:g.96531T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4251T>A
ENST00000695970.1:c.3049T>A	ENSP00000512297.1:p.Tyr1017Asn
ENST00000695971.1:c.3202T>A	ENSP00000512298.1:p.Tyr1068Asn
ENST00000695972.1:c.*300T>A	ENSP00000512299.1:n.*300T>A
ENST00000695973.1:c.*1587T>A	ENSP00000512300.1:n.*1587T>A
ENST00000695974.1:c.3046T>A	ENSP00000512301.1:p.Tyr1016Asn
ENST00000695975.1:c.*1350T>A	ENSP00000512302.1:n.*1350T>A
ENST00000695976.1:c.3034T>A	ENSP00000512303.1:p.Tyr1012Asn
ENST00000695981.1:c.3223T>A	ENSP00000512306.1:p.Tyr1075Asn
ENST00000695984.1:c.1231T>A	ENSP00000512309.1:p.Tyr411Asn
ENST00000695986.1:c.*2874T>A	ENSP00000512311.1:n.*2874T>A
ENST00000696026.1:c.*1505T>A	ENSP00000512335.1:n.*1505T>A
ENST00000696027.1:c.3217T>A	ENSP00000512336.1:p.Tyr1073Asn
ENST00000696028.1:c.3151T>A	ENSP00000512337.1:p.Tyr1051Asn
ENST00000696029.1:c.3217T>A	ENSP00000512338.1:p.Tyr1073Asn
ENST00000696031.1:c.*2741T>A	ENSP00000512340.1:n.*2741T>A
ENST00000696032.1:c.3223T>A	ENSP00000512341.1:p.Tyr1075Asn
ENST00000696033.1:c.1160-36256T>A	ENSP00000512342.1:n.1160-36256T>A
ENST00000367429.9:c.3223T>A MANE Select	ENSP00000356399.4:p.Tyr1075Asn
ENST00000367429.8:c.3223T>A	ENSP00000356399.4:p.Tyr1075Asn
ENST00000466229.5:n.6321T>A
NM_000186.3:c.3223T>A , LRG_47t1:c.3223T>A	NP_000177.2:p.Tyr1075Asn
XR_001737134.2:n.3409T>A
NM_000186.4:c.3223T>A MANE Select	NP_000177.2:p.Tyr1075Asn