Canonical Allele Identifier: CA1305438

Gene: CFH

Linked Data

• ClinVar Variation Id: 294493
• ClinVar RCV Id: RCV000269675 ; RCV000310698 ; RCV000364256 ; RCV000365181 ; RCV001508934
• dbSNP Id: rs147403664
• ExAC: 1:196684751 T / A
• gnomAD v2: 1-196684751-T-A
• gnomAD v3: 1-196715621-T-A
• gnomAD v4: 1-196715621-T-A
• MyVariant Identifiers: chr1:g.196684751T>A (hg19) ; chr1:g.196715621T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196715621T>A , CM000663.2:g.196715621T>A	GRCh38
NC_000001.10:g.196684751T>A , CM000663.1:g.196684751T>A	GRCh37
NC_000001.9:g.194951374T>A	NCBI36
NG_007259.1:g.68611T>A , LRG_47:g.68611T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.1814T>A
ENST00000695969.1:c.1548T>A	ENSP00000512296.1:p.Asn516Lys
ENST00000695970.1:c.1548T>A	ENSP00000512297.1:p.Asn516Lys
ENST00000695971.1:c.1527T>A	ENSP00000512298.1:p.Asn509Lys
ENST00000695972.1:c.1548T>A	ENSP00000512299.1:p.Asn516Lys
ENST00000695973.1:c.1548T>A	ENSP00000512300.1:p.Asn516Lys
ENST00000695974.1:c.1548T>A	ENSP00000512301.1:p.Asn516Lys
ENST00000695975.1:c.1548T>A	ENSP00000512302.1:p.Asn516Lys
ENST00000695976.1:c.1359T>A	ENSP00000512303.1:p.Asn453Lys
ENST00000695981.1:c.1548T>A	ENSP00000512306.1:p.Asn516Lys
ENST00000695983.1:c.1548T>A	ENSP00000512308.1:p.Asn516Lys
ENST00000695984.1:c.245-12725T>A	ENSP00000512309.1:n.245-12725T>A
ENST00000695986.1:c.*1199T>A	ENSP00000512311.1:n.*1199T>A
ENST00000696024.1:n.1632T>A
ENST00000696025.1:n.1632T>A
ENST00000696026.1:c.1548T>A	ENSP00000512335.1:p.Asn516Lys
ENST00000696027.1:c.1548T>A	ENSP00000512336.1:p.Asn516Lys
ENST00000696028.1:c.1548T>A	ENSP00000512337.1:p.Asn516Lys
ENST00000696029.1:c.1548T>A	ENSP00000512338.1:p.Asn516Lys
ENST00000696031.1:c.*1066T>A	ENSP00000512340.1:n.*1066T>A
ENST00000696032.1:c.1548T>A	ENSP00000512341.1:p.Asn516Lys
ENST00000696033.1:c.1159+26007T>A	ENSP00000512342.1:n.1159+26007T>A
ENST00000367429.9:c.1548T>A MANE Select	ENSP00000356399.4:p.Asn516Lys
ENST00000367429.8:c.1548T>A	ENSP00000356399.4:p.Asn516Lys
ENST00000466229.5:n.3564T>A
NM_000186.3:c.1548T>A , LRG_47t1:c.1548T>A	NP_000177.2:p.Asn516Lys
XR_001737134.2:n.1633T>A
NM_000186.4:c.1548T>A MANE Select	NP_000177.2:p.Asn516Lys