Canonical Allele Identifier: CA422663432

Gene: CFH

Linked Data

• MyVariant Identifiers: chr1:g.196716251A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747121A>T , CM000663.2:g.196747121A>T	GRCh38
NC_000001.10:g.196716251A>T , CM000663.1:g.196716251A>T	GRCh37
NC_000001.9:g.194982874A>T	NCBI36
NG_007259.1:g.100111A>T , LRG_47:g.100111A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000470918.2:n.4532A>T
ENST00000695970.1:c.3330A>T	ENSP00000512297.1:p.Val1110=
ENST00000695971.1:c.3483A>T	ENSP00000512298.1:p.Val1161=
ENST00000695972.1:c.*581A>T	ENSP00000512299.1:n.*581A>T
ENST00000695973.1:c.*1868A>T	ENSP00000512300.1:n.*1868A>T
ENST00000695974.1:c.3327A>T	ENSP00000512301.1:p.Val1109=
ENST00000695975.1:c.*1631A>T	ENSP00000512302.1:n.*1631A>T
ENST00000695976.1:c.3315A>T	ENSP00000512303.1:p.Val1105=
ENST00000695981.1:c.3504A>T	ENSP00000512306.1:p.Val1168=
ENST00000695984.1:c.1512A>T	ENSP00000512309.1:p.Val504=
ENST00000695986.1:c.*3155A>T	ENSP00000512311.1:n.*3155A>T
ENST00000695990.1:n.538A>T
ENST00000696026.1:c.*1786A>T	ENSP00000512335.1:n.*1786A>T
ENST00000696027.1:c.3498A>T	ENSP00000512336.1:p.Val1166=
ENST00000696028.1:c.3432A>T	ENSP00000512337.1:p.Val1144=
ENST00000696029.1:c.3498A>T	ENSP00000512338.1:p.Val1166=
ENST00000696031.1:c.*3022A>T	ENSP00000512340.1:n.*3022A>T
ENST00000696032.1:c.3504A>T	ENSP00000512341.1:p.Val1168=
ENST00000696033.1:c.1160-32676A>T	ENSP00000512342.1:n.1160-32676A>T
ENST00000367429.9:c.3504A>T MANE Select	ENSP00000356399.4:p.Val1168=
ENST00000367429.8:c.3504A>T	ENSP00000356399.4:p.Val1168=
ENST00000466229.5:n.6602A>T
NM_000186.3:c.3504A>T , LRG_47t1:c.3504A>T	NP_000177.2:p.Val1168=
XR_001737134.2:n.3690A>T
NM_000186.4:c.3504A>T MANE Select	NP_000177.2:p.Val1168=