Canonical Allele Identifier: CA422662871

Gene: CFH

Linked Data

• MyVariant Identifiers: chr1:g.196712619T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196743489T>C , CM000663.2:g.196743489T>C	GRCh38
NC_000001.10:g.196712619T>C , CM000663.1:g.196712619T>C	GRCh37
NC_000001.9:g.194979242T>C	NCBI36
NG_007259.1:g.96479T>C , LRG_47:g.96479T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4199T>C
ENST00000695970.1:c.2997T>C	ENSP00000512297.1:p.Ala999=
ENST00000695971.1:c.3150T>C	ENSP00000512298.1:p.Ala1050=
ENST00000695972.1:c.*248T>C	ENSP00000512299.1:n.*248T>C
ENST00000695973.1:c.*1535T>C	ENSP00000512300.1:n.*1535T>C
ENST00000695974.1:c.2994T>C	ENSP00000512301.1:p.Ala998=
ENST00000695975.1:c.*1298T>C	ENSP00000512302.1:n.*1298T>C
ENST00000695976.1:c.2982T>C	ENSP00000512303.1:p.Ala994=
ENST00000695981.1:c.3171T>C	ENSP00000512306.1:p.Ala1057=
ENST00000695984.1:c.1179T>C	ENSP00000512309.1:p.Ala393=
ENST00000695986.1:c.*2822T>C	ENSP00000512311.1:n.*2822T>C
ENST00000696026.1:c.*1453T>C	ENSP00000512335.1:n.*1453T>C
ENST00000696027.1:c.3165T>C	ENSP00000512336.1:p.Ala1055=
ENST00000696028.1:c.3099T>C	ENSP00000512337.1:p.Ala1033=
ENST00000696029.1:c.3165T>C	ENSP00000512338.1:p.Ala1055=
ENST00000696031.1:c.*2689T>C	ENSP00000512340.1:n.*2689T>C
ENST00000696032.1:c.3171T>C	ENSP00000512341.1:p.Ala1057=
ENST00000696033.1:c.1160-36308T>C	ENSP00000512342.1:n.1160-36308T>C
ENST00000367429.9:c.3171T>C MANE Select	ENSP00000356399.4:p.Ala1057=
ENST00000367429.8:c.3171T>C	ENSP00000356399.4:p.Ala1057=
ENST00000466229.5:n.6269T>C
NM_000186.3:c.3171T>C , LRG_47t1:c.3171T>C	NP_000177.2:p.Ala1057=
XR_001737134.2:n.3357T>C
NM_000186.4:c.3171T>C MANE Select	NP_000177.2:p.Ala1057=