Canonical Allele Identifier: CA343987579

Gene: CFH

Linked Data

• dbSNP Id: rs1297047056
• MyVariant Identifiers: chr1:g.196716309A>T (hg19) ; chr1:g.196747179A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747179A>T , CM000663.2:g.196747179A>T	GRCh38
NC_000001.10:g.196716309A>T , CM000663.1:g.196716309A>T	GRCh37
NC_000001.9:g.194982932A>T	NCBI36
NG_007259.1:g.100169A>T , LRG_47:g.100169A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000470918.2:n.4590A>T
ENST00000695970.1:c.3388A>T	ENSP00000512297.1:p.Lys1130Ter
ENST00000695971.1:c.3541A>T	ENSP00000512298.1:p.Lys1181Ter
ENST00000695972.1:c.*639A>T	ENSP00000512299.1:n.*639A>T
ENST00000695973.1:c.*1926A>T	ENSP00000512300.1:n.*1926A>T
ENST00000695974.1:c.3385A>T	ENSP00000512301.1:p.Lys1129Ter
ENST00000695975.1:c.*1689A>T	ENSP00000512302.1:n.*1689A>T
ENST00000695976.1:c.3373A>T	ENSP00000512303.1:p.Lys1125Ter
ENST00000695981.1:c.3562A>T	ENSP00000512306.1:p.Lys1188Ter
ENST00000695984.1:c.1570A>T	ENSP00000512309.1:p.Lys524Ter
ENST00000695986.1:c.*3213A>T	ENSP00000512311.1:n.*3213A>T
ENST00000695990.1:n.596A>T
ENST00000696026.1:c.*1844A>T	ENSP00000512335.1:n.*1844A>T
ENST00000696027.1:c.3556A>T	ENSP00000512336.1:p.Lys1186Ter
ENST00000696028.1:c.3490A>T	ENSP00000512337.1:p.Lys1164Ter
ENST00000696029.1:c.3556A>T	ENSP00000512338.1:p.Lys1186Ter
ENST00000696031.1:c.*3080A>T	ENSP00000512340.1:n.*3080A>T
ENST00000696032.1:c.3562A>T	ENSP00000512341.1:p.Lys1188Ter
ENST00000696033.1:c.1160-32618A>T	ENSP00000512342.1:n.1160-32618A>T
ENST00000367429.9:c.3562A>T MANE Select	ENSP00000356399.4:p.Lys1188Ter
ENST00000367429.8:c.3562A>T	ENSP00000356399.4:p.Lys1188Ter
ENST00000466229.5:n.6660A>T
NM_000186.3:c.3562A>T , LRG_47t1:c.3562A>T	NP_000177.2:p.Lys1188Ter
XR_001737134.2:n.3748A>T
NM_000186.4:c.3562A>T MANE Select	NP_000177.2:p.Lys1188Ter