Canonical Allele Identifier: CA343987060

Gene: CFH

Linked Data

• MyVariant Identifiers: chr1:g.196716264A>C (hg19) ; chr1:g.196747134A>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000470918.2:n.4545A>C
ENST00000695970.1:c.3343A>C	ENSP00000512297.1:p.Ile1115Leu
ENST00000695971.1:c.3496A>C	ENSP00000512298.1:p.Ile1166Leu
ENST00000695972.1:c.*594A>C	ENSP00000512299.1:n.*594A>C
ENST00000695973.1:c.*1881A>C	ENSP00000512300.1:n.*1881A>C
ENST00000695974.1:c.3340A>C	ENSP00000512301.1:p.Ile1114Leu
ENST00000695975.1:c.*1644A>C	ENSP00000512302.1:n.*1644A>C
ENST00000695976.1:c.3328A>C	ENSP00000512303.1:p.Ile1110Leu
ENST00000695981.1:c.3517A>C	ENSP00000512306.1:p.Ile1173Leu
ENST00000695984.1:c.1525A>C	ENSP00000512309.1:p.Ile509Leu
ENST00000695986.1:c.*3168A>C	ENSP00000512311.1:n.*3168A>C
ENST00000695990.1:n.551A>C
ENST00000696026.1:c.*1799A>C	ENSP00000512335.1:n.*1799A>C
ENST00000696027.1:c.3511A>C	ENSP00000512336.1:p.Ile1171Leu
ENST00000696028.1:c.3445A>C	ENSP00000512337.1:p.Ile1149Leu
ENST00000696029.1:c.3511A>C	ENSP00000512338.1:p.Ile1171Leu
ENST00000696031.1:c.*3035A>C	ENSP00000512340.1:n.*3035A>C
ENST00000696032.1:c.3517A>C	ENSP00000512341.1:p.Ile1173Leu
ENST00000696033.1:c.1160-32663A>C	ENSP00000512342.1:n.1160-32663A>C
ENST00000367429.9:c.3517A>C MANE Select	ENSP00000356399.4:p.Ile1173Leu
ENST00000367429.8:c.3517A>C	ENSP00000356399.4:p.Ile1173Leu
ENST00000466229.5:n.6615A>C
NM_000186.3:c.3517A>C , LRG_47t1:c.3517A>C	NP_000177.2:p.Ile1173Leu
XR_001737134.2:n.3703A>C
NM_000186.4:c.3517A>C MANE Select	NP_000177.2:p.Ile1173Leu