Canonical Allele Identifier: CA343983656

Gene: CFH

Linked Data

• MyVariant Identifiers: chr1:g.196712679T>A (hg19) ; chr1:g.196743549T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196743549T>A , CM000663.2:g.196743549T>A	GRCh38
NC_000001.10:g.196712679T>A , CM000663.1:g.196712679T>A	GRCh37
NC_000001.9:g.194979302T>A	NCBI36
NG_007259.1:g.96539T>A , LRG_47:g.96539T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4259T>A
ENST00000695970.1:c.3057T>A	ENSP00000512297.1:p.Cys1019Ter
ENST00000695971.1:c.3210T>A	ENSP00000512298.1:p.Cys1070Ter
ENST00000695972.1:c.*308T>A	ENSP00000512299.1:n.*308T>A
ENST00000695973.1:c.*1595T>A	ENSP00000512300.1:n.*1595T>A
ENST00000695974.1:c.3054T>A	ENSP00000512301.1:p.Cys1018Ter
ENST00000695975.1:c.*1358T>A	ENSP00000512302.1:n.*1358T>A
ENST00000695976.1:c.3042T>A	ENSP00000512303.1:p.Cys1014Ter
ENST00000695981.1:c.3231T>A	ENSP00000512306.1:p.Cys1077Ter
ENST00000695984.1:c.1239T>A	ENSP00000512309.1:p.Cys413Ter
ENST00000695986.1:c.*2882T>A	ENSP00000512311.1:n.*2882T>A
ENST00000696026.1:c.*1513T>A	ENSP00000512335.1:n.*1513T>A
ENST00000696027.1:c.3225T>A	ENSP00000512336.1:p.Cys1075Ter
ENST00000696028.1:c.3159T>A	ENSP00000512337.1:p.Cys1053Ter
ENST00000696029.1:c.3225T>A	ENSP00000512338.1:p.Cys1075Ter
ENST00000696031.1:c.*2749T>A	ENSP00000512340.1:n.*2749T>A
ENST00000696032.1:c.3231T>A	ENSP00000512341.1:p.Cys1077Ter
ENST00000696033.1:c.1160-36248T>A	ENSP00000512342.1:n.1160-36248T>A
ENST00000367429.9:c.3231T>A MANE Select	ENSP00000356399.4:p.Cys1077Ter
ENST00000367429.8:c.3231T>A	ENSP00000356399.4:p.Cys1077Ter
ENST00000466229.5:n.6329T>A
NM_000186.3:c.3231T>A , LRG_47t1:c.3231T>A	NP_000177.2:p.Cys1077Ter
XR_001737134.2:n.3417T>A
NM_000186.4:c.3231T>A MANE Select	NP_000177.2:p.Cys1077Ter