Canonical Allele Identifier: CA343980545

Gene: CFH

Linked Data

• MyVariant Identifiers: chr1:g.196659214T>G (hg19) ; chr1:g.196690084T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196690084T>G , CM000663.2:g.196690084T>G	GRCh38
NC_000001.10:g.196659214T>G , CM000663.1:g.196659214T>G	GRCh37
NC_000001.9:g.194925837T>G	NCBI36
NG_007259.1:g.43074T>G , LRG_47:g.43074T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359637.3:c.989T>G	ENSP00000352658.2:p.Leu330Trp
ENST00000470918.2:n.1447T>G
ENST00000695968.1:c.998T>G	ENSP00000512295.1:p.Leu333Trp
ENST00000695969.1:c.1181T>G	ENSP00000512296.1:p.Leu394Trp
ENST00000695970.1:c.1181T>G	ENSP00000512297.1:p.Leu394Trp
ENST00000695971.1:c.1160T>G	ENSP00000512298.1:p.Leu387Trp
ENST00000695972.1:c.1181T>G	ENSP00000512299.1:p.Leu394Trp
ENST00000695973.1:c.1181T>G	ENSP00000512300.1:p.Leu394Trp
ENST00000695974.1:c.1181T>G	ENSP00000512301.1:p.Leu394Trp
ENST00000695975.1:c.1181T>G	ENSP00000512302.1:p.Leu394Trp
ENST00000695976.1:c.992T>G	ENSP00000512303.1:p.Leu331Trp
ENST00000695977.1:n.22T>G
ENST00000695978.1:c.1181T>G	ENSP00000512304.1:p.Leu394Trp
ENST00000695979.1:c.1160T>G	ENSP00000512305.1:p.Leu387Trp
ENST00000695980.1:n.1301T>G
ENST00000695981.1:c.1181T>G	ENSP00000512306.1:p.Leu394Trp
ENST00000695983.1:c.1181T>G	ENSP00000512308.1:p.Leu394Trp
ENST00000695984.1:c.244+16921T>G	ENSP00000512309.1:n.244+16921T>G
ENST00000695986.1:c.*832T>G	ENSP00000512311.1:n.*832T>G
ENST00000695987.1:c.992T>G	ENSP00000512312.1:p.Leu331Trp
ENST00000696018.1:n.1265T>G
ENST00000696019.1:n.1265T>G
ENST00000696020.1:n.1265T>G
ENST00000696021.1:n.1244T>G
ENST00000696022.1:n.1265T>G
ENST00000696023.1:c.1181T>G	ENSP00000512334.1:p.Leu394Trp
ENST00000696024.1:n.1265T>G
ENST00000696025.1:n.1265T>G
ENST00000696026.1:c.1181T>G	ENSP00000512335.1:p.Leu394Trp
ENST00000696027.1:c.1181T>G	ENSP00000512336.1:p.Leu394Trp
ENST00000696028.1:c.1181T>G	ENSP00000512337.1:p.Leu394Trp
ENST00000696029.1:c.1181T>G	ENSP00000512338.1:p.Leu394Trp
ENST00000696030.1:c.1106T>G	ENSP00000512339.1:p.Leu369Trp
ENST00000696031.1:c.*699T>G	ENSP00000512340.1:n.*699T>G
ENST00000696032.1:c.1181T>G	ENSP00000512341.1:p.Leu394Trp
ENST00000696033.1:c.1159+470T>G	ENSP00000512342.1:n.1159+470T>G
ENST00000367429.9:c.1181T>G MANE Select	ENSP00000356399.4:p.Leu394Trp
ENST00000359637.2:c.989T>G	ENSP00000352658.2:p.Leu330Trp
ENST00000367429.8:c.1181T>G	ENSP00000356399.4:p.Leu394Trp
ENST00000466229.5:n.3197T>G
ENST00000630130.2:c.1181T>G	ENSP00000487250.1:p.Leu394Trp
NM_000186.3:c.1181T>G , LRG_47t1:c.1181T>G	NP_000177.2:p.Leu394Trp
NM_001014975.2:c.1181T>G	NP_001014975.1:p.Leu394Trp
XM_017001108.2:c.1181T>G	XP_016856597.1:p.Leu394Trp
XR_001737134.2:n.1266T>G
NM_000186.4:c.1181T>G MANE Select	NP_000177.2:p.Leu394Trp
NM_001014975.3:c.1181T>G	NP_001014975.1:p.Leu394Trp