Canonical Allele Identifier: CA1305996

Gene: CFH

Linked Data - Expert Curation

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747260C>T , CM000663.2:g.196747260C>T	GRCh38
NC_000001.10:g.196716390C>T , CM000663.1:g.196716390C>T	GRCh37
NC_000001.9:g.194983013C>T	NCBI36
NG_007259.1:g.100250C>T , LRG_47:g.100250C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4671C>T
ENST00000695970.1:c.3469C>T	ENSP00000512297.1:p.Arg1157Ter
ENST00000695971.1:c.3622C>T	ENSP00000512298.1:p.Arg1208Ter
ENST00000695972.1:c.*720C>T	ENSP00000512299.1:n.*720C>T
ENST00000695973.1:c.*2007C>T	ENSP00000512300.1:n.*2007C>T
ENST00000695974.1:c.3466C>T	ENSP00000512301.1:p.Arg1156Ter
ENST00000695975.1:c.*1770C>T	ENSP00000512302.1:n.*1770C>T
ENST00000695976.1:c.3454C>T	ENSP00000512303.1:p.Arg1152Ter
ENST00000695981.1:c.3580+63C>T	ENSP00000512306.1:n.3580+63C>T
ENST00000695984.1:c.1651C>T	ENSP00000512309.1:p.Arg551Ter
ENST00000695986.1:c.*3294C>T	ENSP00000512311.1:n.*3294C>T
ENST00000695990.1:n.677C>T
ENST00000696026.1:c.*1925C>T	ENSP00000512335.1:n.*1925C>T
ENST00000696027.1:c.3637C>T	ENSP00000512336.1:p.Arg1213Ter
ENST00000696028.1:c.3571C>T	ENSP00000512337.1:p.Arg1191Ter
ENST00000696029.1:c.3637C>T	ENSP00000512338.1:p.Arg1213Ter
ENST00000696031.1:c.*3161C>T	ENSP00000512340.1:n.*3161C>T
ENST00000696032.1:c.3580+63C>T	ENSP00000512341.1:n.3580+63C>T
ENST00000696033.1:c.1160-32537C>T	ENSP00000512342.1:n.1160-32537C>T
ENST00000367429.9:c.3643C>T MANE Select	ENSP00000356399.4:p.Arg1215Ter
ENST00000367429.8:c.3643C>T	ENSP00000356399.4:p.Arg1215Ter
ENST00000466229.5:n.6741C>T
NM_000186.3:c.3643C>T , LRG_47t1:c.3643C>T	NP_000177.2:p.Arg1215Ter
XR_001737134.2:n.3829C>T
NM_000186.4:c.3643C>T MANE Select	NP_000177.2:p.Arg1215Ter