Canonical Allele Identifier: CA343987962

Gene: CFH

Linked Data

• dbSNP Id: rs1469083633
• MyVariant Identifiers: chr1:g.196716345G>T (hg19) ; chr1:g.196747215G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747215G>T , CM000663.2:g.196747215G>T	GRCh38
NC_000001.10:g.196716345G>T , CM000663.1:g.196716345G>T	GRCh37
NC_000001.9:g.194982968G>T	NCBI36
NG_007259.1:g.100205G>T , LRG_47:g.100205G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000470918.2:n.4626G>T
ENST00000695970.1:c.3424G>T	ENSP00000512297.1:p.Val1142Leu
ENST00000695971.1:c.3577G>T	ENSP00000512298.1:p.Val1193Leu
ENST00000695972.1:c.*675G>T	ENSP00000512299.1:n.*675G>T
ENST00000695973.1:c.*1962G>T	ENSP00000512300.1:n.*1962G>T
ENST00000695974.1:c.3421G>T	ENSP00000512301.1:p.Val1141Leu
ENST00000695975.1:c.*1725G>T	ENSP00000512302.1:n.*1725G>T
ENST00000695976.1:c.3409G>T	ENSP00000512303.1:p.Val1137Leu
ENST00000695981.1:c.3580+18G>T	ENSP00000512306.1:n.3580+18G>T
ENST00000695984.1:c.1606G>T	ENSP00000512309.1:p.Val536Leu
ENST00000695986.1:c.*3249G>T	ENSP00000512311.1:n.*3249G>T
ENST00000695990.1:n.632G>T
ENST00000696026.1:c.*1880G>T	ENSP00000512335.1:n.*1880G>T
ENST00000696027.1:c.3592G>T	ENSP00000512336.1:p.Val1198Leu
ENST00000696028.1:c.3526G>T	ENSP00000512337.1:p.Val1176Leu
ENST00000696029.1:c.3592G>T	ENSP00000512338.1:p.Val1198Leu
ENST00000696031.1:c.*3116G>T	ENSP00000512340.1:n.*3116G>T
ENST00000696032.1:c.3580+18G>T	ENSP00000512341.1:n.3580+18G>T
ENST00000696033.1:c.1160-32582G>T	ENSP00000512342.1:n.1160-32582G>T
ENST00000367429.9:c.3598G>T MANE Select	ENSP00000356399.4:p.Val1200Leu
ENST00000367429.8:c.3598G>T	ENSP00000356399.4:p.Val1200Leu
ENST00000466229.5:n.6696G>T
NM_000186.3:c.3598G>T , LRG_47t1:c.3598G>T	NP_000177.2:p.Val1200Leu
XR_001737134.2:n.3784G>T
NM_000186.4:c.3598G>T MANE Select	NP_000177.2:p.Val1200Leu