Canonical Allele Identifier: CA343986927

Gene: CFH

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000470918.2:n.4524C>T
ENST00000695970.1:c.3322C>T	ENSP00000512297.1:p.Pro1108Ser
ENST00000695971.1:c.3475C>T	ENSP00000512298.1:p.Pro1159Ser
ENST00000695972.1:c.*573C>T	ENSP00000512299.1:n.*573C>T
ENST00000695973.1:c.*1860C>T	ENSP00000512300.1:n.*1860C>T
ENST00000695974.1:c.3319C>T	ENSP00000512301.1:p.Pro1107Ser
ENST00000695975.1:c.*1623C>T	ENSP00000512302.1:n.*1623C>T
ENST00000695976.1:c.3307C>T	ENSP00000512303.1:p.Pro1103Ser
ENST00000695981.1:c.3496C>T	ENSP00000512306.1:p.Pro1166Ser
ENST00000695984.1:c.1504C>T	ENSP00000512309.1:p.Pro502Ser
ENST00000695986.1:c.*3147C>T	ENSP00000512311.1:n.*3147C>T
ENST00000695990.1:n.530C>T
ENST00000696026.1:c.*1778C>T	ENSP00000512335.1:n.*1778C>T
ENST00000696027.1:c.3490C>T	ENSP00000512336.1:p.Pro1164Ser
ENST00000696028.1:c.3424C>T	ENSP00000512337.1:p.Pro1142Ser
ENST00000696029.1:c.3490C>T	ENSP00000512338.1:p.Pro1164Ser
ENST00000696031.1:c.*3014C>T	ENSP00000512340.1:n.*3014C>T
ENST00000696032.1:c.3496C>T	ENSP00000512341.1:p.Pro1166Ser
ENST00000696033.1:c.1160-32684C>T	ENSP00000512342.1:n.1160-32684C>T
ENST00000367429.9:c.3496C>T MANE Select	ENSP00000356399.4:p.Pro1166Ser
ENST00000367429.8:c.3496C>T	ENSP00000356399.4:p.Pro1166Ser
ENST00000466229.5:n.6594C>T
NM_000186.3:c.3496C>T , LRG_47t1:c.3496C>T	NP_000177.2:p.Pro1166Ser
XR_001737134.2:n.3682C>T
NM_000186.4:c.3496C>T MANE Select	NP_000177.2:p.Pro1166Ser