Canonical Allele Identifier: CA343982793

Gene: CFH

Linked Data

• MyVariant Identifiers: chr1:g.196712592T>G (hg19) ; chr1:g.196743462T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196743462T>G , CM000663.2:g.196743462T>G	GRCh38
NC_000001.10:g.196712592T>G , CM000663.1:g.196712592T>G	GRCh37
NC_000001.9:g.194979215T>G	NCBI36
NG_007259.1:g.96452T>G , LRG_47:g.96452T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000470918.2:n.4172T>G
ENST00000695970.1:c.2970T>G	ENSP00000512297.1:p.Cys990Trp
ENST00000695971.1:c.3123T>G	ENSP00000512298.1:p.Cys1041Trp
ENST00000695972.1:c.*221T>G	ENSP00000512299.1:n.*221T>G
ENST00000695973.1:c.*1508T>G	ENSP00000512300.1:n.*1508T>G
ENST00000695974.1:c.2967T>G	ENSP00000512301.1:p.Cys989Trp
ENST00000695975.1:c.*1271T>G	ENSP00000512302.1:n.*1271T>G
ENST00000695976.1:c.2955T>G	ENSP00000512303.1:p.Cys985Trp
ENST00000695981.1:c.3144T>G	ENSP00000512306.1:p.Cys1048Trp
ENST00000695984.1:c.1152T>G	ENSP00000512309.1:p.Cys384Trp
ENST00000695986.1:c.*2795T>G	ENSP00000512311.1:n.*2795T>G
ENST00000696026.1:c.*1426T>G	ENSP00000512335.1:n.*1426T>G
ENST00000696027.1:c.3138T>G	ENSP00000512336.1:p.Cys1046Trp
ENST00000696028.1:c.3072T>G	ENSP00000512337.1:p.Cys1024Trp
ENST00000696029.1:c.3138T>G	ENSP00000512338.1:p.Cys1046Trp
ENST00000696031.1:c.*2662T>G	ENSP00000512340.1:n.*2662T>G
ENST00000696032.1:c.3144T>G	ENSP00000512341.1:p.Cys1048Trp
ENST00000696033.1:c.1160-36335T>G	ENSP00000512342.1:n.1160-36335T>G
ENST00000367429.9:c.3144T>G MANE Select	ENSP00000356399.4:p.Cys1048Trp
ENST00000367429.8:c.3144T>G	ENSP00000356399.4:p.Cys1048Trp
ENST00000466229.5:n.6242T>G
NM_000186.3:c.3144T>G , LRG_47t1:c.3144T>G	NP_000177.2:p.Cys1048Trp
XR_001737134.2:n.3330T>G
NM_000186.4:c.3144T>G MANE Select	NP_000177.2:p.Cys1048Trp