Canonical Allele Identifier: CA343989630

Gene: CFH

Linked Data

• dbSNP Id: rs1403643322
• gnomAD v3: 1-196747308-A-T
• gnomAD v4: 1-196747308-A-T
• MyVariant Identifiers: chr1:g.196716438A>T (hg19) ; chr1:g.196747308A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747308A>T , CM000663.2:g.196747308A>T	GRCh38
NC_000001.10:g.196716438A>T , CM000663.1:g.196716438A>T	GRCh37
NC_000001.9:g.194983061A>T	NCBI36
NG_007259.1:g.100298A>T , LRG_47:g.100298A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4719A>T
ENST00000695970.1:c.3517A>T	ENSP00000512297.1:p.Arg1173Ter
ENST00000695971.1:c.3670A>T	ENSP00000512298.1:p.Arg1224Ter
ENST00000695972.1:c.*768A>T	ENSP00000512299.1:n.*768A>T
ENST00000695973.1:c.*2055A>T	ENSP00000512300.1:n.*2055A>T
ENST00000695974.1:c.3514A>T	ENSP00000512301.1:p.Arg1172Ter
ENST00000695975.1:c.*1818A>T	ENSP00000512302.1:n.*1818A>T
ENST00000695976.1:c.3502A>T	ENSP00000512303.1:p.Arg1168Ter
ENST00000695981.1:c.3580+111A>T	ENSP00000512306.1:n.3580+111A>T
ENST00000695984.1:c.1699A>T	ENSP00000512309.1:p.Arg567Ter
ENST00000695986.1:c.*3342A>T	ENSP00000512311.1:n.*3342A>T
ENST00000695990.1:n.725A>T
ENST00000696026.1:c.*1973A>T	ENSP00000512335.1:n.*1973A>T
ENST00000696027.1:c.3685A>T	ENSP00000512336.1:p.Arg1229Ter
ENST00000696028.1:c.3619A>T	ENSP00000512337.1:p.Arg1207Ter
ENST00000696029.1:c.3685A>T	ENSP00000512338.1:p.Arg1229Ter
ENST00000696031.1:c.*3209A>T	ENSP00000512340.1:n.*3209A>T
ENST00000696032.1:c.3580+111A>T	ENSP00000512341.1:n.3580+111A>T
ENST00000696033.1:c.1160-32489A>T	ENSP00000512342.1:n.1160-32489A>T
ENST00000367429.9:c.3691A>T MANE Select	ENSP00000356399.4:p.Arg1231Ter
ENST00000367429.8:c.3691A>T	ENSP00000356399.4:p.Arg1231Ter
ENST00000466229.5:n.6789A>T
NM_000186.3:c.3691A>T , LRG_47t1:c.3691A>T	NP_000177.2:p.Arg1231Ter
XR_001737134.2:n.3877A>T
NM_000186.4:c.3691A>T MANE Select	NP_000177.2:p.Arg1231Ter