Canonical Allele Identifier: CA343983867

Gene: CFH

Linked Data

• gnomAD v4: 1-196743575-A-T
• MyVariant Identifiers: chr1:g.196712705A>T (hg19) ; chr1:g.196743575A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196743575A>T , CM000663.2:g.196743575A>T	GRCh38
NC_000001.10:g.196712705A>T , CM000663.1:g.196712705A>T	GRCh37
NC_000001.9:g.194979328A>T	NCBI36
NG_007259.1:g.96565A>T , LRG_47:g.96565A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4285A>T
ENST00000695970.1:c.3083A>T	ENSP00000512297.1:p.Asp1028Val
ENST00000695971.1:c.3236A>T	ENSP00000512298.1:p.Asp1079Val
ENST00000695972.1:c.*334A>T	ENSP00000512299.1:n.*334A>T
ENST00000695973.1:c.*1621A>T	ENSP00000512300.1:n.*1621A>T
ENST00000695974.1:c.3080A>T	ENSP00000512301.1:p.Asp1027Val
ENST00000695975.1:c.*1384A>T	ENSP00000512302.1:n.*1384A>T
ENST00000695976.1:c.3068A>T	ENSP00000512303.1:p.Asp1023Val
ENST00000695981.1:c.3257A>T	ENSP00000512306.1:p.Asp1086Val
ENST00000695984.1:c.1265A>T	ENSP00000512309.1:p.Asp422Val
ENST00000695986.1:c.*2908A>T	ENSP00000512311.1:n.*2908A>T
ENST00000696026.1:c.*1539A>T	ENSP00000512335.1:n.*1539A>T
ENST00000696027.1:c.3251A>T	ENSP00000512336.1:p.Asp1084Val
ENST00000696028.1:c.3185A>T	ENSP00000512337.1:p.Asp1062Val
ENST00000696029.1:c.3251A>T	ENSP00000512338.1:p.Asp1084Val
ENST00000696031.1:c.*2775A>T	ENSP00000512340.1:n.*2775A>T
ENST00000696032.1:c.3257A>T	ENSP00000512341.1:p.Asp1086Val
ENST00000696033.1:c.1160-36222A>T	ENSP00000512342.1:n.1160-36222A>T
ENST00000367429.9:c.3257A>T MANE Select	ENSP00000356399.4:p.Asp1086Val
ENST00000367429.8:c.3257A>T	ENSP00000356399.4:p.Asp1086Val
ENST00000466229.5:n.6355A>T
NM_000186.3:c.3257A>T , LRG_47t1:c.3257A>T	NP_000177.2:p.Asp1086Val
XR_001737134.2:n.3443A>T
NM_000186.4:c.3257A>T MANE Select	NP_000177.2:p.Asp1086Val