Canonical Allele Identifier: CA343982914

Gene: CFH

Linked Data

• MyVariant Identifiers: chr1:g.196712602C>A (hg19) ; chr1:g.196743472C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196743472C>A , CM000663.2:g.196743472C>A	GRCh38
NC_000001.10:g.196712602C>A , CM000663.1:g.196712602C>A	GRCh37
NC_000001.9:g.194979225C>A	NCBI36
NG_007259.1:g.96462C>A , LRG_47:g.96462C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000470918.2:n.4182C>A
ENST00000695970.1:c.2980C>A	ENSP00000512297.1:p.Pro994Thr
ENST00000695971.1:c.3133C>A	ENSP00000512298.1:p.Pro1045Thr
ENST00000695972.1:c.*231C>A	ENSP00000512299.1:n.*231C>A
ENST00000695973.1:c.*1518C>A	ENSP00000512300.1:n.*1518C>A
ENST00000695974.1:c.2977C>A	ENSP00000512301.1:p.Pro993Thr
ENST00000695975.1:c.*1281C>A	ENSP00000512302.1:n.*1281C>A
ENST00000695976.1:c.2965C>A	ENSP00000512303.1:p.Pro989Thr
ENST00000695981.1:c.3154C>A	ENSP00000512306.1:p.Pro1052Thr
ENST00000695984.1:c.1162C>A	ENSP00000512309.1:p.Pro388Thr
ENST00000695986.1:c.*2805C>A	ENSP00000512311.1:n.*2805C>A
ENST00000696026.1:c.*1436C>A	ENSP00000512335.1:n.*1436C>A
ENST00000696027.1:c.3148C>A	ENSP00000512336.1:p.Pro1050Thr
ENST00000696028.1:c.3082C>A	ENSP00000512337.1:p.Pro1028Thr
ENST00000696029.1:c.3148C>A	ENSP00000512338.1:p.Pro1050Thr
ENST00000696031.1:c.*2672C>A	ENSP00000512340.1:n.*2672C>A
ENST00000696032.1:c.3154C>A	ENSP00000512341.1:p.Pro1052Thr
ENST00000696033.1:c.1160-36325C>A	ENSP00000512342.1:n.1160-36325C>A
ENST00000367429.9:c.3154C>A MANE Select	ENSP00000356399.4:p.Pro1052Thr
ENST00000367429.8:c.3154C>A	ENSP00000356399.4:p.Pro1052Thr
ENST00000466229.5:n.6252C>A
NM_000186.3:c.3154C>A , LRG_47t1:c.3154C>A	NP_000177.2:p.Pro1052Thr
XR_001737134.2:n.3340C>A
NM_000186.4:c.3154C>A MANE Select	NP_000177.2:p.Pro1052Thr