Canonical Allele Identifier: CA343987788

Gene: CFH

Linked Data

• MyVariant Identifiers: chr1:g.196716328G>T (hg19) ; chr1:g.196747198G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747198G>T , CM000663.2:g.196747198G>T	GRCh38
NC_000001.10:g.196716328G>T , CM000663.1:g.196716328G>T	GRCh37
NC_000001.9:g.194982951G>T	NCBI36
NG_007259.1:g.100188G>T , LRG_47:g.100188G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000470918.2:n.4609G>T
ENST00000695970.1:c.3407G>T	ENSP00000512297.1:p.Gly1136Val
ENST00000695971.1:c.3560G>T	ENSP00000512298.1:p.Gly1187Val
ENST00000695972.1:c.*658G>T	ENSP00000512299.1:n.*658G>T
ENST00000695973.1:c.*1945G>T	ENSP00000512300.1:n.*1945G>T
ENST00000695974.1:c.3404G>T	ENSP00000512301.1:p.Gly1135Val
ENST00000695975.1:c.*1708G>T	ENSP00000512302.1:n.*1708G>T
ENST00000695976.1:c.3392G>T	ENSP00000512303.1:p.Gly1131Val
ENST00000695981.1:c.3580+1G>T	ENSP00000512306.1:n.3580+1G>T
ENST00000695984.1:c.1589G>T	ENSP00000512309.1:p.Gly530Val
ENST00000695986.1:c.*3232G>T	ENSP00000512311.1:n.*3232G>T
ENST00000695990.1:n.615G>T
ENST00000696026.1:c.*1863G>T	ENSP00000512335.1:n.*1863G>T
ENST00000696027.1:c.3575G>T	ENSP00000512336.1:p.Gly1192Val
ENST00000696028.1:c.3509G>T	ENSP00000512337.1:p.Gly1170Val
ENST00000696029.1:c.3575G>T	ENSP00000512338.1:p.Gly1192Val
ENST00000696031.1:c.*3099G>T	ENSP00000512340.1:n.*3099G>T
ENST00000696032.1:c.3580+1G>T	ENSP00000512341.1:n.3580+1G>T
ENST00000696033.1:c.1160-32599G>T	ENSP00000512342.1:n.1160-32599G>T
ENST00000367429.9:c.3581G>T MANE Select	ENSP00000356399.4:p.Gly1194Val
ENST00000367429.8:c.3581G>T	ENSP00000356399.4:p.Gly1194Val
ENST00000466229.5:n.6679G>T
NM_000186.3:c.3581G>T , LRG_47t1:c.3581G>T	NP_000177.2:p.Gly1194Val
XR_001737134.2:n.3767G>T
NM_000186.4:c.3581G>T MANE Select	NP_000177.2:p.Gly1194Val