Canonical Allele Identifier: CA343986919

Gene: CFH

Linked Data

• COSMIC: COSM1639659
• MyVariant Identifiers: chr1:g.196716243C>A (hg19) ; chr1:g.196747113C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747113C>A , CM000663.2:g.196747113C>A	GRCh38
NC_000001.10:g.196716243C>A , CM000663.1:g.196716243C>A	GRCh37
NC_000001.9:g.194982866C>A	NCBI36
NG_007259.1:g.100103C>A , LRG_47:g.100103C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000470918.2:n.4524C>A
ENST00000695970.1:c.3322C>A	ENSP00000512297.1:p.Pro1108Thr
ENST00000695971.1:c.3475C>A	ENSP00000512298.1:p.Pro1159Thr
ENST00000695972.1:c.*573C>A	ENSP00000512299.1:n.*573C>A
ENST00000695973.1:c.*1860C>A	ENSP00000512300.1:n.*1860C>A
ENST00000695974.1:c.3319C>A	ENSP00000512301.1:p.Pro1107Thr
ENST00000695975.1:c.*1623C>A	ENSP00000512302.1:n.*1623C>A
ENST00000695976.1:c.3307C>A	ENSP00000512303.1:p.Pro1103Thr
ENST00000695981.1:c.3496C>A	ENSP00000512306.1:p.Pro1166Thr
ENST00000695984.1:c.1504C>A	ENSP00000512309.1:p.Pro502Thr
ENST00000695986.1:c.*3147C>A	ENSP00000512311.1:n.*3147C>A
ENST00000695990.1:n.530C>A
ENST00000696026.1:c.*1778C>A	ENSP00000512335.1:n.*1778C>A
ENST00000696027.1:c.3490C>A	ENSP00000512336.1:p.Pro1164Thr
ENST00000696028.1:c.3424C>A	ENSP00000512337.1:p.Pro1142Thr
ENST00000696029.1:c.3490C>A	ENSP00000512338.1:p.Pro1164Thr
ENST00000696031.1:c.*3014C>A	ENSP00000512340.1:n.*3014C>A
ENST00000696032.1:c.3496C>A	ENSP00000512341.1:p.Pro1166Thr
ENST00000696033.1:c.1160-32684C>A	ENSP00000512342.1:n.1160-32684C>A
ENST00000367429.9:c.3496C>A MANE Select	ENSP00000356399.4:p.Pro1166Thr
ENST00000367429.8:c.3496C>A	ENSP00000356399.4:p.Pro1166Thr
ENST00000466229.5:n.6594C>A
NM_000186.3:c.3496C>A , LRG_47t1:c.3496C>A	NP_000177.2:p.Pro1166Thr
XR_001737134.2:n.3682C>A
NM_000186.4:c.3496C>A MANE Select	NP_000177.2:p.Pro1166Thr