Canonical Allele Identifier: CA422662851

Gene: CFH

Linked Data

• MyVariant Identifiers: chr1:g.196712592T>C (hg19)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000470918.2:n.4172T>C
ENST00000695970.1:c.2970T>C	ENSP00000512297.1:p.Cys990=
ENST00000695971.1:c.3123T>C	ENSP00000512298.1:p.Cys1041=
ENST00000695972.1:c.*221T>C	ENSP00000512299.1:n.*221T>C
ENST00000695973.1:c.*1508T>C	ENSP00000512300.1:n.*1508T>C
ENST00000695974.1:c.2967T>C	ENSP00000512301.1:p.Cys989=
ENST00000695975.1:c.*1271T>C	ENSP00000512302.1:n.*1271T>C
ENST00000695976.1:c.2955T>C	ENSP00000512303.1:p.Cys985=
ENST00000695981.1:c.3144T>C	ENSP00000512306.1:p.Cys1048=
ENST00000695984.1:c.1152T>C	ENSP00000512309.1:p.Cys384=
ENST00000695986.1:c.*2795T>C	ENSP00000512311.1:n.*2795T>C
ENST00000696026.1:c.*1426T>C	ENSP00000512335.1:n.*1426T>C
ENST00000696027.1:c.3138T>C	ENSP00000512336.1:p.Cys1046=
ENST00000696028.1:c.3072T>C	ENSP00000512337.1:p.Cys1024=
ENST00000696029.1:c.3138T>C	ENSP00000512338.1:p.Cys1046=
ENST00000696031.1:c.*2662T>C	ENSP00000512340.1:n.*2662T>C
ENST00000696032.1:c.3144T>C	ENSP00000512341.1:p.Cys1048=
ENST00000696033.1:c.1160-36335T>C	ENSP00000512342.1:n.1160-36335T>C
ENST00000367429.9:c.3144T>C MANE Select	ENSP00000356399.4:p.Cys1048=
ENST00000367429.8:c.3144T>C	ENSP00000356399.4:p.Cys1048=
ENST00000466229.5:n.6242T>C
NM_000186.3:c.3144T>C , LRG_47t1:c.3144T>C	NP_000177.2:p.Cys1048=
XR_001737134.2:n.3330T>C
NM_000186.4:c.3144T>C MANE Select	NP_000177.2:p.Cys1048=