Canonical Allele Identifier: CA343983727

Gene: CFH

Linked Data

• MyVariant Identifiers: chr1:g.196712689T>A (hg19) ; chr1:g.196743559T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196743559T>A , CM000663.2:g.196743559T>A	GRCh38
NC_000001.10:g.196712689T>A , CM000663.1:g.196712689T>A	GRCh37
NC_000001.9:g.194979312T>A	NCBI36
NG_007259.1:g.96549T>A , LRG_47:g.96549T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000470918.2:n.4269T>A
ENST00000695970.1:c.3067T>A	ENSP00000512297.1:p.Tyr1023Asn
ENST00000695971.1:c.3220T>A	ENSP00000512298.1:p.Tyr1074Asn
ENST00000695972.1:c.*318T>A	ENSP00000512299.1:n.*318T>A
ENST00000695973.1:c.*1605T>A	ENSP00000512300.1:n.*1605T>A
ENST00000695974.1:c.3064T>A	ENSP00000512301.1:p.Tyr1022Asn
ENST00000695975.1:c.*1368T>A	ENSP00000512302.1:n.*1368T>A
ENST00000695976.1:c.3052T>A	ENSP00000512303.1:p.Tyr1018Asn
ENST00000695981.1:c.3241T>A	ENSP00000512306.1:p.Tyr1081Asn
ENST00000695984.1:c.1249T>A	ENSP00000512309.1:p.Tyr417Asn
ENST00000695986.1:c.*2892T>A	ENSP00000512311.1:n.*2892T>A
ENST00000696026.1:c.*1523T>A	ENSP00000512335.1:n.*1523T>A
ENST00000696027.1:c.3235T>A	ENSP00000512336.1:p.Tyr1079Asn
ENST00000696028.1:c.3169T>A	ENSP00000512337.1:p.Tyr1057Asn
ENST00000696029.1:c.3235T>A	ENSP00000512338.1:p.Tyr1079Asn
ENST00000696031.1:c.*2759T>A	ENSP00000512340.1:n.*2759T>A
ENST00000696032.1:c.3241T>A	ENSP00000512341.1:p.Tyr1081Asn
ENST00000696033.1:c.1160-36238T>A	ENSP00000512342.1:n.1160-36238T>A
ENST00000367429.9:c.3241T>A MANE Select	ENSP00000356399.4:p.Tyr1081Asn
ENST00000367429.8:c.3241T>A	ENSP00000356399.4:p.Tyr1081Asn
ENST00000466229.5:n.6339T>A
NM_000186.3:c.3241T>A , LRG_47t1:c.3241T>A	NP_000177.2:p.Tyr1081Asn
XR_001737134.2:n.3427T>A
NM_000186.4:c.3241T>A MANE Select	NP_000177.2:p.Tyr1081Asn