Canonical Allele Identifier: CA343983493

Gene: CFH

Linked Data

• MyVariant Identifiers: chr1:g.196712657G>T (hg19) ; chr1:g.196743527G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196743527G>T , CM000663.2:g.196743527G>T	GRCh38
NC_000001.10:g.196712657G>T , CM000663.1:g.196712657G>T	GRCh37
NC_000001.9:g.194979280G>T	NCBI36
NG_007259.1:g.96517G>T , LRG_47:g.96517G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4237G>T
ENST00000695970.1:c.3035G>T	ENSP00000512297.1:p.Gly1012Val
ENST00000695971.1:c.3188G>T	ENSP00000512298.1:p.Gly1063Val
ENST00000695972.1:c.*286G>T	ENSP00000512299.1:n.*286G>T
ENST00000695973.1:c.*1573G>T	ENSP00000512300.1:n.*1573G>T
ENST00000695974.1:c.3032G>T	ENSP00000512301.1:p.Gly1011Val
ENST00000695975.1:c.*1336G>T	ENSP00000512302.1:n.*1336G>T
ENST00000695976.1:c.3020G>T	ENSP00000512303.1:p.Gly1007Val
ENST00000695981.1:c.3209G>T	ENSP00000512306.1:p.Gly1070Val
ENST00000695984.1:c.1217G>T	ENSP00000512309.1:p.Gly406Val
ENST00000695986.1:c.*2860G>T	ENSP00000512311.1:n.*2860G>T
ENST00000696026.1:c.*1491G>T	ENSP00000512335.1:n.*1491G>T
ENST00000696027.1:c.3203G>T	ENSP00000512336.1:p.Gly1068Val
ENST00000696028.1:c.3137G>T	ENSP00000512337.1:p.Gly1046Val
ENST00000696029.1:c.3203G>T	ENSP00000512338.1:p.Gly1068Val
ENST00000696031.1:c.*2727G>T	ENSP00000512340.1:n.*2727G>T
ENST00000696032.1:c.3209G>T	ENSP00000512341.1:p.Gly1070Val
ENST00000696033.1:c.1160-36270G>T	ENSP00000512342.1:n.1160-36270G>T
ENST00000367429.9:c.3209G>T MANE Select	ENSP00000356399.4:p.Gly1070Val
ENST00000367429.8:c.3209G>T	ENSP00000356399.4:p.Gly1070Val
ENST00000466229.5:n.6307G>T
NM_000186.3:c.3209G>T , LRG_47t1:c.3209G>T	NP_000177.2:p.Gly1070Val
XR_001737134.2:n.3395G>T
NM_000186.4:c.3209G>T MANE Select	NP_000177.2:p.Gly1070Val