Canonical Allele Identifier: CA343987069

Gene: CFH

Linked Data

• gnomAD v4: 1-196747134-A-T
• MyVariant Identifiers: chr1:g.196716264A>T (hg19) ; chr1:g.196747134A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747134A>T , CM000663.2:g.196747134A>T	GRCh38
NC_000001.10:g.196716264A>T , CM000663.1:g.196716264A>T	GRCh37
NC_000001.9:g.194982887A>T	NCBI36
NG_007259.1:g.100124A>T , LRG_47:g.100124A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000470918.2:n.4545A>T
ENST00000695970.1:c.3343A>T	ENSP00000512297.1:p.Ile1115Phe
ENST00000695971.1:c.3496A>T	ENSP00000512298.1:p.Ile1166Phe
ENST00000695972.1:c.*594A>T	ENSP00000512299.1:n.*594A>T
ENST00000695973.1:c.*1881A>T	ENSP00000512300.1:n.*1881A>T
ENST00000695974.1:c.3340A>T	ENSP00000512301.1:p.Ile1114Phe
ENST00000695975.1:c.*1644A>T	ENSP00000512302.1:n.*1644A>T
ENST00000695976.1:c.3328A>T	ENSP00000512303.1:p.Ile1110Phe
ENST00000695981.1:c.3517A>T	ENSP00000512306.1:p.Ile1173Phe
ENST00000695984.1:c.1525A>T	ENSP00000512309.1:p.Ile509Phe
ENST00000695986.1:c.*3168A>T	ENSP00000512311.1:n.*3168A>T
ENST00000695990.1:n.551A>T
ENST00000696026.1:c.*1799A>T	ENSP00000512335.1:n.*1799A>T
ENST00000696027.1:c.3511A>T	ENSP00000512336.1:p.Ile1171Phe
ENST00000696028.1:c.3445A>T	ENSP00000512337.1:p.Ile1149Phe
ENST00000696029.1:c.3511A>T	ENSP00000512338.1:p.Ile1171Phe
ENST00000696031.1:c.*3035A>T	ENSP00000512340.1:n.*3035A>T
ENST00000696032.1:c.3517A>T	ENSP00000512341.1:p.Ile1173Phe
ENST00000696033.1:c.1160-32663A>T	ENSP00000512342.1:n.1160-32663A>T
ENST00000367429.9:c.3517A>T MANE Select	ENSP00000356399.4:p.Ile1173Phe
ENST00000367429.8:c.3517A>T	ENSP00000356399.4:p.Ile1173Phe
ENST00000466229.5:n.6615A>T
NM_000186.3:c.3517A>T , LRG_47t1:c.3517A>T	NP_000177.2:p.Ile1173Phe
XR_001737134.2:n.3703A>T
NM_000186.4:c.3517A>T MANE Select	NP_000177.2:p.Ile1173Phe