Canonical Allele Identifier: CA343980597

Gene: CFH

Linked Data

• MyVariant Identifiers: chr1:g.196659236T>G (hg19) ; chr1:g.196690106T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196690106T>G , CM000663.2:g.196690106T>G	GRCh38
NC_000001.10:g.196659236T>G , CM000663.1:g.196659236T>G	GRCh37
NC_000001.9:g.194925859T>G	NCBI36
NG_007259.1:g.43096T>G , LRG_47:g.43096T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359637.3:c.1011T>G	ENSP00000352658.2:p.Asn337Lys
ENST00000470918.2:n.1469T>G
ENST00000695968.1:c.1020T>G	ENSP00000512295.1:p.Asn340Lys
ENST00000695969.1:c.1203T>G	ENSP00000512296.1:p.Asn401Lys
ENST00000695970.1:c.1203T>G	ENSP00000512297.1:p.Asn401Lys
ENST00000695971.1:c.1182T>G	ENSP00000512298.1:p.Asn394Lys
ENST00000695972.1:c.1203T>G	ENSP00000512299.1:p.Asn401Lys
ENST00000695973.1:c.1203T>G	ENSP00000512300.1:p.Asn401Lys
ENST00000695974.1:c.1203T>G	ENSP00000512301.1:p.Asn401Lys
ENST00000695975.1:c.1203T>G	ENSP00000512302.1:p.Asn401Lys
ENST00000695976.1:c.1014T>G	ENSP00000512303.1:p.Asn338Lys
ENST00000695977.1:n.44T>G
ENST00000695978.1:c.1203T>G	ENSP00000512304.1:p.Asn401Lys
ENST00000695979.1:c.1182T>G	ENSP00000512305.1:p.Asn394Lys
ENST00000695980.1:n.1323T>G
ENST00000695981.1:c.1203T>G	ENSP00000512306.1:p.Asn401Lys
ENST00000695983.1:c.1203T>G	ENSP00000512308.1:p.Asn401Lys
ENST00000695984.1:c.244+16943T>G	ENSP00000512309.1:n.244+16943T>G
ENST00000695986.1:c.*854T>G	ENSP00000512311.1:n.*854T>G
ENST00000695987.1:c.1014T>G	ENSP00000512312.1:p.Asn338Lys
ENST00000696018.1:n.1287T>G
ENST00000696019.1:n.1287T>G
ENST00000696020.1:n.1287T>G
ENST00000696021.1:n.1266T>G
ENST00000696022.1:n.1287T>G
ENST00000696023.1:c.1203T>G	ENSP00000512334.1:p.Asn401Lys
ENST00000696024.1:n.1287T>G
ENST00000696025.1:n.1287T>G
ENST00000696026.1:c.1203T>G	ENSP00000512335.1:p.Asn401Lys
ENST00000696027.1:c.1203T>G	ENSP00000512336.1:p.Asn401Lys
ENST00000696028.1:c.1203T>G	ENSP00000512337.1:p.Asn401Lys
ENST00000696029.1:c.1203T>G	ENSP00000512338.1:p.Asn401Lys
ENST00000696030.1:c.1128T>G	ENSP00000512339.1:p.Asn376Lys
ENST00000696031.1:c.*721T>G	ENSP00000512340.1:n.*721T>G
ENST00000696032.1:c.1203T>G	ENSP00000512341.1:p.Asn401Lys
ENST00000696033.1:c.1159+492T>G	ENSP00000512342.1:n.1159+492T>G
ENST00000367429.9:c.1203T>G MANE Select	ENSP00000356399.4:p.Asn401Lys
ENST00000359637.2:c.1011T>G	ENSP00000352658.2:p.Asn337Lys
ENST00000367429.8:c.1203T>G	ENSP00000356399.4:p.Asn401Lys
ENST00000466229.5:n.3219T>G
ENST00000630130.2:c.1203T>G	ENSP00000487250.1:p.Asn401Lys
NM_000186.3:c.1203T>G , LRG_47t1:c.1203T>G	NP_000177.2:p.Asn401Lys
NM_001014975.2:c.1203T>G	NP_001014975.1:p.Asn401Lys
XM_017001108.2:c.1203T>G	XP_016856597.1:p.Asn401Lys
XR_001737134.2:n.1288T>G
NM_000186.4:c.1203T>G MANE Select	NP_000177.2:p.Asn401Lys
NM_001014975.3:c.1203T>G	NP_001014975.1:p.Asn401Lys