Canonical Allele Identifier: CA343988240

Gene: CFH

Linked Data

• ClinVar Variation Id: 1712431
• ClinVar RCV Id: RCV002294686
• MyVariant Identifiers: chr1:g.196716391G>T (hg19) ; chr1:g.196747261G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747261G>T , CM000663.2:g.196747261G>T	GRCh38
NC_000001.10:g.196716391G>T , CM000663.1:g.196716391G>T	GRCh37
NC_000001.9:g.194983014G>T	NCBI36
NG_007259.1:g.100251G>T , LRG_47:g.100251G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000470918.2:n.4672G>T
ENST00000695970.1:c.3470G>T	ENSP00000512297.1:p.Arg1157Leu
ENST00000695971.1:c.3623G>T	ENSP00000512298.1:p.Arg1208Leu
ENST00000695972.1:c.*721G>T	ENSP00000512299.1:n.*721G>T
ENST00000695973.1:c.*2008G>T	ENSP00000512300.1:n.*2008G>T
ENST00000695974.1:c.3467G>T	ENSP00000512301.1:p.Arg1156Leu
ENST00000695975.1:c.*1771G>T	ENSP00000512302.1:n.*1771G>T
ENST00000695976.1:c.3455G>T	ENSP00000512303.1:p.Arg1152Leu
ENST00000695981.1:c.3580+64G>T	ENSP00000512306.1:n.3580+64G>T
ENST00000695984.1:c.1652G>T	ENSP00000512309.1:p.Arg551Leu
ENST00000695986.1:c.*3295G>T	ENSP00000512311.1:n.*3295G>T
ENST00000695990.1:n.678G>T
ENST00000696026.1:c.*1926G>T	ENSP00000512335.1:n.*1926G>T
ENST00000696027.1:c.3638G>T	ENSP00000512336.1:p.Arg1213Leu
ENST00000696028.1:c.3572G>T	ENSP00000512337.1:p.Arg1191Leu
ENST00000696029.1:c.3638G>T	ENSP00000512338.1:p.Arg1213Leu
ENST00000696031.1:c.*3162G>T	ENSP00000512340.1:n.*3162G>T
ENST00000696032.1:c.3580+64G>T	ENSP00000512341.1:n.3580+64G>T
ENST00000696033.1:c.1160-32536G>T	ENSP00000512342.1:n.1160-32536G>T
ENST00000367429.9:c.3644G>T MANE Select	ENSP00000356399.4:p.Arg1215Leu
ENST00000367429.8:c.3644G>T	ENSP00000356399.4:p.Arg1215Leu
ENST00000466229.5:n.6742G>T
NM_000186.3:c.3644G>T , LRG_47t1:c.3644G>T	NP_000177.2:p.Arg1215Leu
XR_001737134.2:n.3830G>T
NM_000186.4:c.3644G>T MANE Select	NP_000177.2:p.Arg1215Leu