Canonical Allele Identifier: CA422663852

Gene: CFH

Linked Data

• MyVariant Identifiers: chr1:g.196716416G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747286G>T , CM000663.2:g.196747286G>T	GRCh38
NC_000001.10:g.196716416G>T , CM000663.1:g.196716416G>T	GRCh37
NC_000001.9:g.194983039G>T	NCBI36
NG_007259.1:g.100276G>T , LRG_47:g.100276G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000470918.2:n.4697G>T
ENST00000695970.1:c.3495G>T	ENSP00000512297.1:p.Leu1165=
ENST00000695971.1:c.3648G>T	ENSP00000512298.1:p.Leu1216=
ENST00000695972.1:c.*746G>T	ENSP00000512299.1:n.*746G>T
ENST00000695973.1:c.*2033G>T	ENSP00000512300.1:n.*2033G>T
ENST00000695974.1:c.3492G>T	ENSP00000512301.1:p.Leu1164=
ENST00000695975.1:c.*1796G>T	ENSP00000512302.1:n.*1796G>T
ENST00000695976.1:c.3480G>T	ENSP00000512303.1:p.Leu1160=
ENST00000695981.1:c.3580+89G>T	ENSP00000512306.1:n.3580+89G>T
ENST00000695984.1:c.1677G>T	ENSP00000512309.1:p.Leu559=
ENST00000695986.1:c.*3320G>T	ENSP00000512311.1:n.*3320G>T
ENST00000695990.1:n.703G>T
ENST00000696026.1:c.*1951G>T	ENSP00000512335.1:n.*1951G>T
ENST00000696027.1:c.3663G>T	ENSP00000512336.1:p.Leu1221=
ENST00000696028.1:c.3597G>T	ENSP00000512337.1:p.Leu1199=
ENST00000696029.1:c.3663G>T	ENSP00000512338.1:p.Leu1221=
ENST00000696031.1:c.*3187G>T	ENSP00000512340.1:n.*3187G>T
ENST00000696032.1:c.3580+89G>T	ENSP00000512341.1:n.3580+89G>T
ENST00000696033.1:c.1160-32511G>T	ENSP00000512342.1:n.1160-32511G>T
ENST00000367429.9:c.3669G>T MANE Select	ENSP00000356399.4:p.Leu1223=
ENST00000367429.8:c.3669G>T	ENSP00000356399.4:p.Leu1223=
ENST00000466229.5:n.6767G>T
NM_000186.3:c.3669G>T , LRG_47t1:c.3669G>T	NP_000177.2:p.Leu1223=
XR_001737134.2:n.3855G>T
NM_000186.4:c.3669G>T MANE Select	NP_000177.2:p.Leu1223=