Canonical Allele Identifier: CA343983872

Gene: CFH

Linked Data

• MyVariant Identifiers: chr1:g.196712706T>A (hg19) ; chr1:g.196743576T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196743576T>A , CM000663.2:g.196743576T>A	GRCh38
NC_000001.10:g.196712706T>A , CM000663.1:g.196712706T>A	GRCh37
NC_000001.9:g.194979329T>A	NCBI36
NG_007259.1:g.96566T>A , LRG_47:g.96566T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4286T>A
ENST00000695970.1:c.3084T>A	ENSP00000512297.1:p.Asp1028Glu
ENST00000695971.1:c.3237T>A	ENSP00000512298.1:p.Asp1079Glu
ENST00000695972.1:c.*335T>A	ENSP00000512299.1:n.*335T>A
ENST00000695973.1:c.*1622T>A	ENSP00000512300.1:n.*1622T>A
ENST00000695974.1:c.3081T>A	ENSP00000512301.1:p.Asp1027Glu
ENST00000695975.1:c.*1385T>A	ENSP00000512302.1:n.*1385T>A
ENST00000695976.1:c.3069T>A	ENSP00000512303.1:p.Asp1023Glu
ENST00000695981.1:c.3258T>A	ENSP00000512306.1:p.Asp1086Glu
ENST00000695984.1:c.1266T>A	ENSP00000512309.1:p.Asp422Glu
ENST00000695986.1:c.*2909T>A	ENSP00000512311.1:n.*2909T>A
ENST00000696026.1:c.*1540T>A	ENSP00000512335.1:n.*1540T>A
ENST00000696027.1:c.3252T>A	ENSP00000512336.1:p.Asp1084Glu
ENST00000696028.1:c.3186T>A	ENSP00000512337.1:p.Asp1062Glu
ENST00000696029.1:c.3252T>A	ENSP00000512338.1:p.Asp1084Glu
ENST00000696031.1:c.*2776T>A	ENSP00000512340.1:n.*2776T>A
ENST00000696032.1:c.3258T>A	ENSP00000512341.1:p.Asp1086Glu
ENST00000696033.1:c.1160-36221T>A	ENSP00000512342.1:n.1160-36221T>A
ENST00000367429.9:c.3258T>A MANE Select	ENSP00000356399.4:p.Asp1086Glu
ENST00000367429.8:c.3258T>A	ENSP00000356399.4:p.Asp1086Glu
ENST00000466229.5:n.6356T>A
NM_000186.3:c.3258T>A , LRG_47t1:c.3258T>A	NP_000177.2:p.Asp1086Glu
XR_001737134.2:n.3444T>A
NM_000186.4:c.3258T>A MANE Select	NP_000177.2:p.Asp1086Glu