Canonical Allele Identifier: CA343983959

Gene: CFH

Linked Data

• MyVariant Identifiers: chr1:g.196712721T>G (hg19) ; chr1:g.196743591T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196743591T>G , CM000663.2:g.196743591T>G	GRCh38
NC_000001.10:g.196712721T>G , CM000663.1:g.196712721T>G	GRCh37
NC_000001.9:g.194979344T>G	NCBI36
NG_007259.1:g.96581T>G , LRG_47:g.96581T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4301T>G
ENST00000695970.1:c.3099T>G	ENSP00000512297.1:p.Cys1033Trp
ENST00000695971.1:c.3252T>G	ENSP00000512298.1:p.Cys1084Trp
ENST00000695972.1:c.*350T>G	ENSP00000512299.1:n.*350T>G
ENST00000695973.1:c.*1637T>G	ENSP00000512300.1:n.*1637T>G
ENST00000695974.1:c.3096T>G	ENSP00000512301.1:p.Cys1032Trp
ENST00000695975.1:c.*1400T>G	ENSP00000512302.1:n.*1400T>G
ENST00000695976.1:c.3084T>G	ENSP00000512303.1:p.Cys1028Trp
ENST00000695981.1:c.3273T>G	ENSP00000512306.1:p.Cys1091Trp
ENST00000695984.1:c.1281T>G	ENSP00000512309.1:p.Cys427Trp
ENST00000695986.1:c.*2924T>G	ENSP00000512311.1:n.*2924T>G
ENST00000696026.1:c.*1555T>G	ENSP00000512335.1:n.*1555T>G
ENST00000696027.1:c.3267T>G	ENSP00000512336.1:p.Cys1089Trp
ENST00000696028.1:c.3201T>G	ENSP00000512337.1:p.Cys1067Trp
ENST00000696029.1:c.3267T>G	ENSP00000512338.1:p.Cys1089Trp
ENST00000696031.1:c.*2791T>G	ENSP00000512340.1:n.*2791T>G
ENST00000696032.1:c.3273T>G	ENSP00000512341.1:p.Cys1091Trp
ENST00000696033.1:c.1160-36206T>G	ENSP00000512342.1:n.1160-36206T>G
ENST00000367429.9:c.3273T>G MANE Select	ENSP00000356399.4:p.Cys1091Trp
ENST00000367429.8:c.3273T>G	ENSP00000356399.4:p.Cys1091Trp
ENST00000466229.5:n.6371T>G
NM_000186.3:c.3273T>G , LRG_47t1:c.3273T>G	NP_000177.2:p.Cys1091Trp
XR_001737134.2:n.3459T>G
NM_000186.4:c.3273T>G MANE Select	NP_000177.2:p.Cys1091Trp