Canonical Allele Identifier: CA343983167

Gene: CFH

Linked Data

• MyVariant Identifiers: chr1:g.196712622T>A (hg19) ; chr1:g.196743492T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196743492T>A , CM000663.2:g.196743492T>A	GRCh38
NC_000001.10:g.196712622T>A , CM000663.1:g.196712622T>A	GRCh37
NC_000001.9:g.194979245T>A	NCBI36
NG_007259.1:g.96482T>A , LRG_47:g.96482T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4202T>A
ENST00000695970.1:c.3000T>A	ENSP00000512297.1:p.Tyr1000Ter
ENST00000695971.1:c.3153T>A	ENSP00000512298.1:p.Tyr1051Ter
ENST00000695972.1:c.*251T>A	ENSP00000512299.1:n.*251T>A
ENST00000695973.1:c.*1538T>A	ENSP00000512300.1:n.*1538T>A
ENST00000695974.1:c.2997T>A	ENSP00000512301.1:p.Tyr999Ter
ENST00000695975.1:c.*1301T>A	ENSP00000512302.1:n.*1301T>A
ENST00000695976.1:c.2985T>A	ENSP00000512303.1:p.Tyr995Ter
ENST00000695981.1:c.3174T>A	ENSP00000512306.1:p.Tyr1058Ter
ENST00000695984.1:c.1182T>A	ENSP00000512309.1:p.Tyr394Ter
ENST00000695986.1:c.*2825T>A	ENSP00000512311.1:n.*2825T>A
ENST00000696026.1:c.*1456T>A	ENSP00000512335.1:n.*1456T>A
ENST00000696027.1:c.3168T>A	ENSP00000512336.1:p.Tyr1056Ter
ENST00000696028.1:c.3102T>A	ENSP00000512337.1:p.Tyr1034Ter
ENST00000696029.1:c.3168T>A	ENSP00000512338.1:p.Tyr1056Ter
ENST00000696031.1:c.*2692T>A	ENSP00000512340.1:n.*2692T>A
ENST00000696032.1:c.3174T>A	ENSP00000512341.1:p.Tyr1058Ter
ENST00000696033.1:c.1160-36305T>A	ENSP00000512342.1:n.1160-36305T>A
ENST00000367429.9:c.3174T>A MANE Select	ENSP00000356399.4:p.Tyr1058Ter
ENST00000367429.8:c.3174T>A	ENSP00000356399.4:p.Tyr1058Ter
ENST00000466229.5:n.6272T>A
NM_000186.3:c.3174T>A , LRG_47t1:c.3174T>A	NP_000177.2:p.Tyr1058Ter
XR_001737134.2:n.3360T>A
NM_000186.4:c.3174T>A MANE Select	NP_000177.2:p.Tyr1058Ter