Canonical Allele Identifier: CA343983204

Gene: CFH

Linked Data

• MyVariant Identifiers: chr1:g.196712626G>T (hg19) ; chr1:g.196743496G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196743496G>T , CM000663.2:g.196743496G>T	GRCh38
NC_000001.10:g.196712626G>T , CM000663.1:g.196712626G>T	GRCh37
NC_000001.9:g.194979249G>T	NCBI36
NG_007259.1:g.96486G>T , LRG_47:g.96486G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4206G>T
ENST00000695970.1:c.3004G>T	ENSP00000512297.1:p.Val1002Leu
ENST00000695971.1:c.3157G>T	ENSP00000512298.1:p.Val1053Leu
ENST00000695972.1:c.*255G>T	ENSP00000512299.1:n.*255G>T
ENST00000695973.1:c.*1542G>T	ENSP00000512300.1:n.*1542G>T
ENST00000695974.1:c.3001G>T	ENSP00000512301.1:p.Val1001Leu
ENST00000695975.1:c.*1305G>T	ENSP00000512302.1:n.*1305G>T
ENST00000695976.1:c.2989G>T	ENSP00000512303.1:p.Val997Leu
ENST00000695981.1:c.3178G>T	ENSP00000512306.1:p.Val1060Leu
ENST00000695984.1:c.1186G>T	ENSP00000512309.1:p.Val396Leu
ENST00000695986.1:c.*2829G>T	ENSP00000512311.1:n.*2829G>T
ENST00000696026.1:c.*1460G>T	ENSP00000512335.1:n.*1460G>T
ENST00000696027.1:c.3172G>T	ENSP00000512336.1:p.Val1058Leu
ENST00000696028.1:c.3106G>T	ENSP00000512337.1:p.Val1036Leu
ENST00000696029.1:c.3172G>T	ENSP00000512338.1:p.Val1058Leu
ENST00000696031.1:c.*2696G>T	ENSP00000512340.1:n.*2696G>T
ENST00000696032.1:c.3178G>T	ENSP00000512341.1:p.Val1060Leu
ENST00000696033.1:c.1160-36301G>T	ENSP00000512342.1:n.1160-36301G>T
ENST00000367429.9:c.3178G>T MANE Select	ENSP00000356399.4:p.Val1060Leu
ENST00000367429.8:c.3178G>T	ENSP00000356399.4:p.Val1060Leu
ENST00000466229.5:n.6276G>T
NM_000186.3:c.3178G>T , LRG_47t1:c.3178G>T	NP_000177.2:p.Val1060Leu
XR_001737134.2:n.3364G>T
NM_000186.4:c.3178G>T MANE Select	NP_000177.2:p.Val1060Leu