Canonical Allele Identifier: CA343989680

Gene: CFH

Linked Data

• MyVariant Identifiers: chr1:g.196716443G>T (hg19) ; chr1:g.196747313G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747313G>T , CM000663.2:g.196747313G>T	GRCh38
NC_000001.10:g.196716443G>T , CM000663.1:g.196716443G>T	GRCh37
NC_000001.9:g.194983066G>T	NCBI36
NG_007259.1:g.100303G>T , LRG_47:g.100303G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4724G>T
ENST00000695970.1:c.3522G>T	ENSP00000512297.1:p.Ter1174Tyr
ENST00000695971.1:c.3675G>T	ENSP00000512298.1:p.Ter1225Tyr
ENST00000695972.1:c.*773G>T	ENSP00000512299.1:n.*773G>T
ENST00000695973.1:c.*2060G>T	ENSP00000512300.1:n.*2060G>T
ENST00000695974.1:c.3519G>T	ENSP00000512301.1:p.Ter1173Tyr
ENST00000695975.1:c.*1823G>T	ENSP00000512302.1:n.*1823G>T
ENST00000695976.1:c.3507G>T	ENSP00000512303.1:p.Ter1169Tyr
ENST00000695981.1:c.3580+116G>T	ENSP00000512306.1:n.3580+116G>T
ENST00000695984.1:c.1704G>T	ENSP00000512309.1:p.Ter568Tyr
ENST00000695986.1:c.*3347G>T	ENSP00000512311.1:n.*3347G>T
ENST00000695990.1:n.730G>T
ENST00000696026.1:c.*1978G>T	ENSP00000512335.1:n.*1978G>T
ENST00000696027.1:c.3690G>T	ENSP00000512336.1:p.Ter1230Tyr
ENST00000696028.1:c.3624G>T	ENSP00000512337.1:p.Ter1208Tyr
ENST00000696029.1:c.3690G>T	ENSP00000512338.1:p.Ter1230Tyr
ENST00000696031.1:c.*3214G>T	ENSP00000512340.1:n.*3214G>T
ENST00000696032.1:c.3580+116G>T	ENSP00000512341.1:n.3580+116G>T
ENST00000696033.1:c.1160-32484G>T	ENSP00000512342.1:n.1160-32484G>T
ENST00000367429.9:c.3696G>T MANE Select	ENSP00000356399.4:p.Ter1232Tyr
ENST00000367429.8:c.3696G>T	ENSP00000356399.4:p.Ter1232Tyr
ENST00000466229.5:n.6794G>T
NM_000186.3:c.3696G>T , LRG_47t1:c.3696G>T	NP_000177.2:p.Ter1232Tyr
XR_001737134.2:n.3882G>T
NM_000186.4:c.3696G>T MANE Select	NP_000177.2:p.Ter1232Tyr