Canonical Allele Identifier: CA528260275

Gene: CFH

Linked Data

• dbSNP Id: rs371680052
• gnomAD v2: 1-196716472-C-T
• gnomAD v4: 1-196747342-C-T
• MyVariant Identifiers: chr1:g.196716472C>T (hg19) ; chr1:g.196747342C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747342C>T , CM000663.2:g.196747342C>T	GRCh38
NC_000001.10:g.196716472C>T , CM000663.1:g.196716472C>T	GRCh37
NC_000001.9:g.194983095C>T	NCBI36
NG_007259.1:g.100332C>T , LRG_47:g.100332C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4753C>T
ENST00000695970.1:c.*29C>T	ENSP00000512297.1:n.*29C>T
ENST00000695971.1:c.*29C>T	ENSP00000512298.1:n.*29C>T
ENST00000695972.1:c.*802C>T	ENSP00000512299.1:n.*802C>T
ENST00000695973.1:c.*2089C>T	ENSP00000512300.1:n.*2089C>T
ENST00000695974.1:c.*29C>T	ENSP00000512301.1:n.*29C>T
ENST00000695975.1:c.*1852C>T	ENSP00000512302.1:n.*1852C>T
ENST00000695976.1:c.*29C>T	ENSP00000512303.1:n.*29C>T
ENST00000695981.1:c.3580+145C>T	ENSP00000512306.1:n.3580+145C>T
ENST00000695984.1:c.*29C>T	ENSP00000512309.1:n.*29C>T
ENST00000695986.1:c.*3376C>T	ENSP00000512311.1:n.*3376C>T
ENST00000695990.1:n.759C>T
ENST00000696026.1:c.*2007C>T	ENSP00000512335.1:n.*2007C>T
ENST00000696027.1:c.*29C>T	ENSP00000512336.1:n.*29C>T
ENST00000696028.1:c.*29C>T	ENSP00000512337.1:n.*29C>T
ENST00000696029.1:c.*29C>T	ENSP00000512338.1:n.*29C>T
ENST00000696031.1:c.*3243C>T	ENSP00000512340.1:n.*3243C>T
ENST00000696032.1:c.3580+145C>T	ENSP00000512341.1:n.3580+145C>T
ENST00000696033.1:c.1160-32455C>T	ENSP00000512342.1:n.1160-32455C>T
ENST00000367429.9:c.*29C>T MANE Select	ENSP00000356399.4:n.*29C>T
ENST00000367429.8:c.*29C>T	ENSP00000356399.4:n.*29C>T
ENST00000466229.5:n.6823C>T
NM_000186.3:c.*29C>T , LRG_47t1:c.*29C>T	NP_000177.2:n.*29C>T
XR_001737134.2:n.3911C>T
NM_000186.4:c.*29C>T MANE Select	NP_000177.2:n.*29C>T