Canonical Allele Identifier: CA343983918

Gene: CFH

Linked Data

• MyVariant Identifiers: chr1:g.196712713G>T (hg19) ; chr1:g.196743583G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196743583G>T , CM000663.2:g.196743583G>T	GRCh38
NC_000001.10:g.196712713G>T , CM000663.1:g.196712713G>T	GRCh37
NC_000001.9:g.194979336G>T	NCBI36
NG_007259.1:g.96573G>T , LRG_47:g.96573G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4293G>T
ENST00000695970.1:c.3091G>T	ENSP00000512297.1:p.Val1031Leu
ENST00000695971.1:c.3244G>T	ENSP00000512298.1:p.Val1082Leu
ENST00000695972.1:c.*342G>T	ENSP00000512299.1:n.*342G>T
ENST00000695973.1:c.*1629G>T	ENSP00000512300.1:n.*1629G>T
ENST00000695974.1:c.3088G>T	ENSP00000512301.1:p.Val1030Leu
ENST00000695975.1:c.*1392G>T	ENSP00000512302.1:n.*1392G>T
ENST00000695976.1:c.3076G>T	ENSP00000512303.1:p.Val1026Leu
ENST00000695981.1:c.3265G>T	ENSP00000512306.1:p.Val1089Leu
ENST00000695984.1:c.1273G>T	ENSP00000512309.1:p.Val425Leu
ENST00000695986.1:c.*2916G>T	ENSP00000512311.1:n.*2916G>T
ENST00000696026.1:c.*1547G>T	ENSP00000512335.1:n.*1547G>T
ENST00000696027.1:c.3259G>T	ENSP00000512336.1:p.Val1087Leu
ENST00000696028.1:c.3193G>T	ENSP00000512337.1:p.Val1065Leu
ENST00000696029.1:c.3259G>T	ENSP00000512338.1:p.Val1087Leu
ENST00000696031.1:c.*2783G>T	ENSP00000512340.1:n.*2783G>T
ENST00000696032.1:c.3265G>T	ENSP00000512341.1:p.Val1089Leu
ENST00000696033.1:c.1160-36214G>T	ENSP00000512342.1:n.1160-36214G>T
ENST00000367429.9:c.3265G>T MANE Select	ENSP00000356399.4:p.Val1089Leu
ENST00000367429.8:c.3265G>T	ENSP00000356399.4:p.Val1089Leu
ENST00000466229.5:n.6363G>T
NM_000186.3:c.3265G>T , LRG_47t1:c.3265G>T	NP_000177.2:p.Val1089Leu
XR_001737134.2:n.3451G>T
NM_000186.4:c.3265G>T MANE Select	NP_000177.2:p.Val1089Leu