Canonical Allele Identifier: CA343987526

Gene: CFH

Linked Data

• MyVariant Identifiers: chr1:g.196716304A>T (hg19) ; chr1:g.196747174A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747174A>T , CM000663.2:g.196747174A>T	GRCh38
NC_000001.10:g.196716304A>T , CM000663.1:g.196716304A>T	GRCh37
NC_000001.9:g.194982927A>T	NCBI36
NG_007259.1:g.100164A>T , LRG_47:g.100164A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000470918.2:n.4585A>T
ENST00000695970.1:c.3383A>T	ENSP00000512297.1:p.Lys1128Ile
ENST00000695971.1:c.3536A>T	ENSP00000512298.1:p.Lys1179Ile
ENST00000695972.1:c.*634A>T	ENSP00000512299.1:n.*634A>T
ENST00000695973.1:c.*1921A>T	ENSP00000512300.1:n.*1921A>T
ENST00000695974.1:c.3380A>T	ENSP00000512301.1:p.Lys1127Ile
ENST00000695975.1:c.*1684A>T	ENSP00000512302.1:n.*1684A>T
ENST00000695976.1:c.3368A>T	ENSP00000512303.1:p.Lys1123Ile
ENST00000695981.1:c.3557A>T	ENSP00000512306.1:p.Lys1186Ile
ENST00000695984.1:c.1565A>T	ENSP00000512309.1:p.Lys522Ile
ENST00000695986.1:c.*3208A>T	ENSP00000512311.1:n.*3208A>T
ENST00000695990.1:n.591A>T
ENST00000696026.1:c.*1839A>T	ENSP00000512335.1:n.*1839A>T
ENST00000696027.1:c.3551A>T	ENSP00000512336.1:p.Lys1184Ile
ENST00000696028.1:c.3485A>T	ENSP00000512337.1:p.Lys1162Ile
ENST00000696029.1:c.3551A>T	ENSP00000512338.1:p.Lys1184Ile
ENST00000696031.1:c.*3075A>T	ENSP00000512340.1:n.*3075A>T
ENST00000696032.1:c.3557A>T	ENSP00000512341.1:p.Lys1186Ile
ENST00000696033.1:c.1160-32623A>T	ENSP00000512342.1:n.1160-32623A>T
ENST00000367429.9:c.3557A>T MANE Select	ENSP00000356399.4:p.Lys1186Ile
ENST00000367429.8:c.3557A>T	ENSP00000356399.4:p.Lys1186Ile
ENST00000466229.5:n.6655A>T
NM_000186.3:c.3557A>T , LRG_47t1:c.3557A>T	NP_000177.2:p.Lys1186Ile
XR_001737134.2:n.3743A>T
NM_000186.4:c.3557A>T MANE Select	NP_000177.2:p.Lys1186Ile