Canonical Allele Identifier: CA343989108

Gene: CFH

Linked Data

• MyVariant Identifiers: chr1:g.196716400G>T (hg19) ; chr1:g.196747270G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747270G>T , CM000663.2:g.196747270G>T	GRCh38
NC_000001.10:g.196716400G>T , CM000663.1:g.196716400G>T	GRCh37
NC_000001.9:g.194983023G>T	NCBI36
NG_007259.1:g.100260G>T , LRG_47:g.100260G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000470918.2:n.4681G>T
ENST00000695970.1:c.3479G>T	ENSP00000512297.1:p.Cys1160Phe
ENST00000695971.1:c.3632G>T	ENSP00000512298.1:p.Cys1211Phe
ENST00000695972.1:c.*730G>T	ENSP00000512299.1:n.*730G>T
ENST00000695973.1:c.*2017G>T	ENSP00000512300.1:n.*2017G>T
ENST00000695974.1:c.3476G>T	ENSP00000512301.1:p.Cys1159Phe
ENST00000695975.1:c.*1780G>T	ENSP00000512302.1:n.*1780G>T
ENST00000695976.1:c.3464G>T	ENSP00000512303.1:p.Cys1155Phe
ENST00000695981.1:c.3580+73G>T	ENSP00000512306.1:n.3580+73G>T
ENST00000695984.1:c.1661G>T	ENSP00000512309.1:p.Cys554Phe
ENST00000695986.1:c.*3304G>T	ENSP00000512311.1:n.*3304G>T
ENST00000695990.1:n.687G>T
ENST00000696026.1:c.*1935G>T	ENSP00000512335.1:n.*1935G>T
ENST00000696027.1:c.3647G>T	ENSP00000512336.1:p.Cys1216Phe
ENST00000696028.1:c.3581G>T	ENSP00000512337.1:p.Cys1194Phe
ENST00000696029.1:c.3647G>T	ENSP00000512338.1:p.Cys1216Phe
ENST00000696031.1:c.*3171G>T	ENSP00000512340.1:n.*3171G>T
ENST00000696032.1:c.3580+73G>T	ENSP00000512341.1:n.3580+73G>T
ENST00000696033.1:c.1160-32527G>T	ENSP00000512342.1:n.1160-32527G>T
ENST00000367429.9:c.3653G>T MANE Select	ENSP00000356399.4:p.Cys1218Phe
ENST00000367429.8:c.3653G>T	ENSP00000356399.4:p.Cys1218Phe
ENST00000466229.5:n.6751G>T
NM_000186.3:c.3653G>T , LRG_47t1:c.3653G>T	NP_000177.2:p.Cys1218Phe
XR_001737134.2:n.3839G>T
NM_000186.4:c.3653G>T MANE Select	NP_000177.2:p.Cys1218Phe