Canonical Allele Identifier: CA343989231

Gene: CFH

Linked Data

• dbSNP Id: rs1653050352
• gnomAD v3: 1-196747281-A-G
• gnomAD v4: 1-196747281-A-G
• MyVariant Identifiers: chr1:g.196716411A>G (hg19) ; chr1:g.196747281A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747281A>G , CM000663.2:g.196747281A>G	GRCh38
NC_000001.10:g.196716411A>G , CM000663.1:g.196716411A>G	GRCh37
NC_000001.9:g.194983034A>G	NCBI36
NG_007259.1:g.100271A>G , LRG_47:g.100271A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000470918.2:n.4692A>G
ENST00000695970.1:c.3490A>G	ENSP00000512297.1:p.Lys1164Glu
ENST00000695971.1:c.3643A>G	ENSP00000512298.1:p.Lys1215Glu
ENST00000695972.1:c.*741A>G	ENSP00000512299.1:n.*741A>G
ENST00000695973.1:c.*2028A>G	ENSP00000512300.1:n.*2028A>G
ENST00000695974.1:c.3487A>G	ENSP00000512301.1:p.Lys1163Glu
ENST00000695975.1:c.*1791A>G	ENSP00000512302.1:n.*1791A>G
ENST00000695976.1:c.3475A>G	ENSP00000512303.1:p.Lys1159Glu
ENST00000695981.1:c.3580+84A>G	ENSP00000512306.1:n.3580+84A>G
ENST00000695984.1:c.1672A>G	ENSP00000512309.1:p.Lys558Glu
ENST00000695986.1:c.*3315A>G	ENSP00000512311.1:n.*3315A>G
ENST00000695990.1:n.698A>G
ENST00000696026.1:c.*1946A>G	ENSP00000512335.1:n.*1946A>G
ENST00000696027.1:c.3658A>G	ENSP00000512336.1:p.Lys1220Glu
ENST00000696028.1:c.3592A>G	ENSP00000512337.1:p.Lys1198Glu
ENST00000696029.1:c.3658A>G	ENSP00000512338.1:p.Lys1220Glu
ENST00000696031.1:c.*3182A>G	ENSP00000512340.1:n.*3182A>G
ENST00000696032.1:c.3580+84A>G	ENSP00000512341.1:n.3580+84A>G
ENST00000696033.1:c.1160-32516A>G	ENSP00000512342.1:n.1160-32516A>G
ENST00000367429.9:c.3664A>G MANE Select	ENSP00000356399.4:p.Lys1222Glu
ENST00000367429.8:c.3664A>G	ENSP00000356399.4:p.Lys1222Glu
ENST00000466229.5:n.6762A>G
NM_000186.3:c.3664A>G , LRG_47t1:c.3664A>G	NP_000177.2:p.Lys1222Glu
XR_001737134.2:n.3850A>G
NM_000186.4:c.3664A>G MANE Select	NP_000177.2:p.Lys1222Glu