Canonical Allele Identifier: CA343986911

Gene: CFH

Linked Data

• gnomAD v4: 1-196747111-A-T
• MyVariant Identifiers: chr1:g.196716241A>T (hg19) ; chr1:g.196747111A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747111A>T , CM000663.2:g.196747111A>T	GRCh38
NC_000001.10:g.196716241A>T , CM000663.1:g.196716241A>T	GRCh37
NC_000001.9:g.194982864A>T	NCBI36
NG_007259.1:g.100101A>T , LRG_47:g.100101A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000470918.2:n.4522A>T
ENST00000695970.1:c.3320A>T	ENSP00000512297.1:p.His1107Leu
ENST00000695971.1:c.3473A>T	ENSP00000512298.1:p.His1158Leu
ENST00000695972.1:c.*571A>T	ENSP00000512299.1:n.*571A>T
ENST00000695973.1:c.*1858A>T	ENSP00000512300.1:n.*1858A>T
ENST00000695974.1:c.3317A>T	ENSP00000512301.1:p.His1106Leu
ENST00000695975.1:c.*1621A>T	ENSP00000512302.1:n.*1621A>T
ENST00000695976.1:c.3305A>T	ENSP00000512303.1:p.His1102Leu
ENST00000695981.1:c.3494A>T	ENSP00000512306.1:p.His1165Leu
ENST00000695984.1:c.1502A>T	ENSP00000512309.1:p.His501Leu
ENST00000695986.1:c.*3145A>T	ENSP00000512311.1:n.*3145A>T
ENST00000695990.1:n.528A>T
ENST00000696026.1:c.*1776A>T	ENSP00000512335.1:n.*1776A>T
ENST00000696027.1:c.3488A>T	ENSP00000512336.1:p.His1163Leu
ENST00000696028.1:c.3422A>T	ENSP00000512337.1:p.His1141Leu
ENST00000696029.1:c.3488A>T	ENSP00000512338.1:p.His1163Leu
ENST00000696031.1:c.*3012A>T	ENSP00000512340.1:n.*3012A>T
ENST00000696032.1:c.3494A>T	ENSP00000512341.1:p.His1165Leu
ENST00000696033.1:c.1160-32686A>T	ENSP00000512342.1:n.1160-32686A>T
ENST00000367429.9:c.3494A>T MANE Select	ENSP00000356399.4:p.His1165Leu
ENST00000367429.8:c.3494A>T	ENSP00000356399.4:p.His1165Leu
ENST00000466229.5:n.6592A>T
NM_000186.3:c.3494A>T , LRG_47t1:c.3494A>T	NP_000177.2:p.His1165Leu
XR_001737134.2:n.3680A>T
NM_000186.4:c.3494A>T MANE Select	NP_000177.2:p.His1165Leu