Canonical Allele Identifier: CA343988049

Gene: CFH

Linked Data

• MyVariant Identifiers: chr1:g.196716358G>T (hg19) ; chr1:g.196747228G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747228G>T , CM000663.2:g.196747228G>T	GRCh38
NC_000001.10:g.196716358G>T , CM000663.1:g.196716358G>T	GRCh37
NC_000001.9:g.194982981G>T	NCBI36
NG_007259.1:g.100218G>T , LRG_47:g.100218G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000470918.2:n.4639G>T
ENST00000695970.1:c.3437G>T	ENSP00000512297.1:p.Gly1146Val
ENST00000695971.1:c.3590G>T	ENSP00000512298.1:p.Gly1197Val
ENST00000695972.1:c.*688G>T	ENSP00000512299.1:n.*688G>T
ENST00000695973.1:c.*1975G>T	ENSP00000512300.1:n.*1975G>T
ENST00000695974.1:c.3434G>T	ENSP00000512301.1:p.Gly1145Val
ENST00000695975.1:c.*1738G>T	ENSP00000512302.1:n.*1738G>T
ENST00000695976.1:c.3422G>T	ENSP00000512303.1:p.Gly1141Val
ENST00000695981.1:c.3580+31G>T	ENSP00000512306.1:n.3580+31G>T
ENST00000695984.1:c.1619G>T	ENSP00000512309.1:p.Gly540Val
ENST00000695986.1:c.*3262G>T	ENSP00000512311.1:n.*3262G>T
ENST00000695990.1:n.645G>T
ENST00000696026.1:c.*1893G>T	ENSP00000512335.1:n.*1893G>T
ENST00000696027.1:c.3605G>T	ENSP00000512336.1:p.Gly1202Val
ENST00000696028.1:c.3539G>T	ENSP00000512337.1:p.Gly1180Val
ENST00000696029.1:c.3605G>T	ENSP00000512338.1:p.Gly1202Val
ENST00000696031.1:c.*3129G>T	ENSP00000512340.1:n.*3129G>T
ENST00000696032.1:c.3580+31G>T	ENSP00000512341.1:n.3580+31G>T
ENST00000696033.1:c.1160-32569G>T	ENSP00000512342.1:n.1160-32569G>T
ENST00000367429.9:c.3611G>T MANE Select	ENSP00000356399.4:p.Gly1204Val
ENST00000367429.8:c.3611G>T	ENSP00000356399.4:p.Gly1204Val
ENST00000466229.5:n.6709G>T
NM_000186.3:c.3611G>T , LRG_47t1:c.3611G>T	NP_000177.2:p.Gly1204Val
XR_001737134.2:n.3797G>T
NM_000186.4:c.3611G>T MANE Select	NP_000177.2:p.Gly1204Val