Canonical Allele Identifier: CA343987090

Gene: CFH

Linked Data

• MyVariant Identifiers: chr1:g.196716265T>C (hg19) ; chr1:g.196747135T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747135T>C , CM000663.2:g.196747135T>C	GRCh38
NC_000001.10:g.196716265T>C , CM000663.1:g.196716265T>C	GRCh37
NC_000001.9:g.194982888T>C	NCBI36
NG_007259.1:g.100125T>C , LRG_47:g.100125T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000470918.2:n.4546T>C
ENST00000695970.1:c.3344T>C	ENSP00000512297.1:p.Ile1115Thr
ENST00000695971.1:c.3497T>C	ENSP00000512298.1:p.Ile1166Thr
ENST00000695972.1:c.*595T>C	ENSP00000512299.1:n.*595T>C
ENST00000695973.1:c.*1882T>C	ENSP00000512300.1:n.*1882T>C
ENST00000695974.1:c.3341T>C	ENSP00000512301.1:p.Ile1114Thr
ENST00000695975.1:c.*1645T>C	ENSP00000512302.1:n.*1645T>C
ENST00000695976.1:c.3329T>C	ENSP00000512303.1:p.Ile1110Thr
ENST00000695981.1:c.3518T>C	ENSP00000512306.1:p.Ile1173Thr
ENST00000695984.1:c.1526T>C	ENSP00000512309.1:p.Ile509Thr
ENST00000695986.1:c.*3169T>C	ENSP00000512311.1:n.*3169T>C
ENST00000695990.1:n.552T>C
ENST00000696026.1:c.*1800T>C	ENSP00000512335.1:n.*1800T>C
ENST00000696027.1:c.3512T>C	ENSP00000512336.1:p.Ile1171Thr
ENST00000696028.1:c.3446T>C	ENSP00000512337.1:p.Ile1149Thr
ENST00000696029.1:c.3512T>C	ENSP00000512338.1:p.Ile1171Thr
ENST00000696031.1:c.*3036T>C	ENSP00000512340.1:n.*3036T>C
ENST00000696032.1:c.3518T>C	ENSP00000512341.1:p.Ile1173Thr
ENST00000696033.1:c.1160-32662T>C	ENSP00000512342.1:n.1160-32662T>C
ENST00000367429.9:c.3518T>C MANE Select	ENSP00000356399.4:p.Ile1173Thr
ENST00000367429.8:c.3518T>C	ENSP00000356399.4:p.Ile1173Thr
ENST00000466229.5:n.6616T>C
NM_000186.3:c.3518T>C , LRG_47t1:c.3518T>C	NP_000177.2:p.Ile1173Thr
XR_001737134.2:n.3704T>C
NM_000186.4:c.3518T>C MANE Select	NP_000177.2:p.Ile1173Thr