Canonical Allele Identifier: CA343989656

Gene: CFH

Linked Data

• gnomAD v4: 1-196747312-A-T
• MyVariant Identifiers: chr1:g.196716442A>T (hg19) ; chr1:g.196747312A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747312A>T , CM000663.2:g.196747312A>T	GRCh38
NC_000001.10:g.196716442A>T , CM000663.1:g.196716442A>T	GRCh37
NC_000001.9:g.194983065A>T	NCBI36
NG_007259.1:g.100302A>T , LRG_47:g.100302A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4723A>T
ENST00000695970.1:c.3521A>T	ENSP00000512297.1:p.Ter1174Leu
ENST00000695971.1:c.3674A>T	ENSP00000512298.1:p.Ter1225Leu
ENST00000695972.1:c.*772A>T	ENSP00000512299.1:n.*772A>T
ENST00000695973.1:c.*2059A>T	ENSP00000512300.1:n.*2059A>T
ENST00000695974.1:c.3518A>T	ENSP00000512301.1:p.Ter1173Leu
ENST00000695975.1:c.*1822A>T	ENSP00000512302.1:n.*1822A>T
ENST00000695976.1:c.3506A>T	ENSP00000512303.1:p.Ter1169Leu
ENST00000695981.1:c.3580+115A>T	ENSP00000512306.1:n.3580+115A>T
ENST00000695984.1:c.1703A>T	ENSP00000512309.1:p.Ter568Leu
ENST00000695986.1:c.*3346A>T	ENSP00000512311.1:n.*3346A>T
ENST00000695990.1:n.729A>T
ENST00000696026.1:c.*1977A>T	ENSP00000512335.1:n.*1977A>T
ENST00000696027.1:c.3689A>T	ENSP00000512336.1:p.Ter1230Leu
ENST00000696028.1:c.3623A>T	ENSP00000512337.1:p.Ter1208Leu
ENST00000696029.1:c.3689A>T	ENSP00000512338.1:p.Ter1230Leu
ENST00000696031.1:c.*3213A>T	ENSP00000512340.1:n.*3213A>T
ENST00000696032.1:c.3580+115A>T	ENSP00000512341.1:n.3580+115A>T
ENST00000696033.1:c.1160-32485A>T	ENSP00000512342.1:n.1160-32485A>T
ENST00000367429.9:c.3695A>T MANE Select	ENSP00000356399.4:p.Ter1232Leu
ENST00000367429.8:c.3695A>T	ENSP00000356399.4:p.Ter1232Leu
ENST00000466229.5:n.6793A>T
NM_000186.3:c.3695A>T , LRG_47t1:c.3695A>T	NP_000177.2:p.Ter1232Leu
XR_001737134.2:n.3881A>T
NM_000186.4:c.3695A>T MANE Select	NP_000177.2:p.Ter1232Leu