Canonical Allele Identifier: CA1305983

Gene: CFH

Linked Data

• ClinVar Variation Id: 636910
• ClinVar RCV Id: RCV000788876
• dbSNP Id: rs761877050
• ExAC: 1:196716328 G / A
• gnomAD v2: 1-196716328-G-A
• gnomAD v3: 1-196747198-G-A
• gnomAD v4: 1-196747198-G-A
• MyVariant Identifiers: chr1:g.196716328G>A (hg19) ; chr1:g.196747198G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747198G>A , CM000663.2:g.196747198G>A	GRCh38
NC_000001.10:g.196716328G>A , CM000663.1:g.196716328G>A	GRCh37
NC_000001.9:g.194982951G>A	NCBI36
NG_007259.1:g.100188G>A , LRG_47:g.100188G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000470918.2:n.4609G>A
ENST00000695970.1:c.3407G>A	ENSP00000512297.1:p.Gly1136Asp
ENST00000695971.1:c.3560G>A	ENSP00000512298.1:p.Gly1187Asp
ENST00000695972.1:c.*658G>A	ENSP00000512299.1:n.*658G>A
ENST00000695973.1:c.*1945G>A	ENSP00000512300.1:n.*1945G>A
ENST00000695974.1:c.3404G>A	ENSP00000512301.1:p.Gly1135Asp
ENST00000695975.1:c.*1708G>A	ENSP00000512302.1:n.*1708G>A
ENST00000695976.1:c.3392G>A	ENSP00000512303.1:p.Gly1131Asp
ENST00000695981.1:c.3580+1G>A	ENSP00000512306.1:n.3580+1G>A
ENST00000695984.1:c.1589G>A	ENSP00000512309.1:p.Gly530Asp
ENST00000695986.1:c.*3232G>A	ENSP00000512311.1:n.*3232G>A
ENST00000695990.1:n.615G>A
ENST00000696026.1:c.*1863G>A	ENSP00000512335.1:n.*1863G>A
ENST00000696027.1:c.3575G>A	ENSP00000512336.1:p.Gly1192Asp
ENST00000696028.1:c.3509G>A	ENSP00000512337.1:p.Gly1170Asp
ENST00000696029.1:c.3575G>A	ENSP00000512338.1:p.Gly1192Asp
ENST00000696031.1:c.*3099G>A	ENSP00000512340.1:n.*3099G>A
ENST00000696032.1:c.3580+1G>A	ENSP00000512341.1:n.3580+1G>A
ENST00000696033.1:c.1160-32599G>A	ENSP00000512342.1:n.1160-32599G>A
ENST00000367429.9:c.3581G>A MANE Select	ENSP00000356399.4:p.Gly1194Asp
ENST00000367429.8:c.3581G>A	ENSP00000356399.4:p.Gly1194Asp
ENST00000466229.5:n.6679G>A
NM_000186.3:c.3581G>A , LRG_47t1:c.3581G>A	NP_000177.2:p.Gly1194Asp
XR_001737134.2:n.3767G>A
NM_000186.4:c.3581G>A MANE Select	NP_000177.2:p.Gly1194Asp