Canonical Allele Identifier: CA2649647285

Gene: CFH

Linked Data

• gnomAD v4: 1-196747375-A-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747375A>T , CM000663.2:g.196747375A>T	GRCh38
NC_000001.10:g.196716505A>T , CM000663.1:g.196716505A>T	GRCh37
NC_000001.9:g.194983128A>T	NCBI36
NG_007259.1:g.100365A>T , LRG_47:g.100365A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4786A>T
ENST00000695970.1:c.*62A>T	ENSP00000512297.1:n.*62A>T
ENST00000695971.1:c.*62A>T	ENSP00000512298.1:n.*62A>T
ENST00000695972.1:c.*835A>T	ENSP00000512299.1:n.*835A>T
ENST00000695973.1:c.*2122A>T	ENSP00000512300.1:n.*2122A>T
ENST00000695974.1:c.*62A>T	ENSP00000512301.1:n.*62A>T
ENST00000695975.1:c.*1885A>T	ENSP00000512302.1:n.*1885A>T
ENST00000695976.1:c.*62A>T	ENSP00000512303.1:n.*62A>T
ENST00000695981.1:c.3580+178A>T	ENSP00000512306.1:n.3580+178A>T
ENST00000695984.1:c.*62A>T	ENSP00000512309.1:n.*62A>T
ENST00000695986.1:c.*3409A>T	ENSP00000512311.1:n.*3409A>T
ENST00000695990.1:n.792A>T
ENST00000696026.1:c.*2040A>T	ENSP00000512335.1:n.*2040A>T
ENST00000696027.1:c.*62A>T	ENSP00000512336.1:n.*62A>T
ENST00000696028.1:c.*62A>T	ENSP00000512337.1:n.*62A>T
ENST00000696029.1:c.*62A>T	ENSP00000512338.1:n.*62A>T
ENST00000696031.1:c.*3276A>T	ENSP00000512340.1:n.*3276A>T
ENST00000696032.1:c.3580+178A>T	ENSP00000512341.1:n.3580+178A>T
ENST00000696033.1:c.1160-32422A>T	ENSP00000512342.1:n.1160-32422A>T
ENST00000367429.9:c.*62A>T MANE Select	ENSP00000356399.4:n.*62A>T
ENST00000367429.8:c.*62A>T	ENSP00000356399.4:n.*62A>T
ENST00000466229.5:n.6856A>T
NM_000186.3:c.*62A>T , LRG_47t1:c.*62A>T	NP_000177.2:n.*62A>T
XR_001737134.2:n.3944A>T
NM_000186.4:c.*62A>T MANE Select	NP_000177.2:n.*62A>T