Canonical Allele Identifier: CA343986932

Gene: CFH

Linked Data

• MyVariant Identifiers: chr1:g.196716244C>A (hg19) ; chr1:g.196747114C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747114C>A , CM000663.2:g.196747114C>A	GRCh38
NC_000001.10:g.196716244C>A , CM000663.1:g.196716244C>A	GRCh37
NC_000001.9:g.194982867C>A	NCBI36
NG_007259.1:g.100104C>A , LRG_47:g.100104C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000470918.2:n.4525C>A
ENST00000695970.1:c.3323C>A	ENSP00000512297.1:p.Pro1108Gln
ENST00000695971.1:c.3476C>A	ENSP00000512298.1:p.Pro1159Gln
ENST00000695972.1:c.*574C>A	ENSP00000512299.1:n.*574C>A
ENST00000695973.1:c.*1861C>A	ENSP00000512300.1:n.*1861C>A
ENST00000695974.1:c.3320C>A	ENSP00000512301.1:p.Pro1107Gln
ENST00000695975.1:c.*1624C>A	ENSP00000512302.1:n.*1624C>A
ENST00000695976.1:c.3308C>A	ENSP00000512303.1:p.Pro1103Gln
ENST00000695981.1:c.3497C>A	ENSP00000512306.1:p.Pro1166Gln
ENST00000695984.1:c.1505C>A	ENSP00000512309.1:p.Pro502Gln
ENST00000695986.1:c.*3148C>A	ENSP00000512311.1:n.*3148C>A
ENST00000695990.1:n.531C>A
ENST00000696026.1:c.*1779C>A	ENSP00000512335.1:n.*1779C>A
ENST00000696027.1:c.3491C>A	ENSP00000512336.1:p.Pro1164Gln
ENST00000696028.1:c.3425C>A	ENSP00000512337.1:p.Pro1142Gln
ENST00000696029.1:c.3491C>A	ENSP00000512338.1:p.Pro1164Gln
ENST00000696031.1:c.*3015C>A	ENSP00000512340.1:n.*3015C>A
ENST00000696032.1:c.3497C>A	ENSP00000512341.1:p.Pro1166Gln
ENST00000696033.1:c.1160-32683C>A	ENSP00000512342.1:n.1160-32683C>A
ENST00000367429.9:c.3497C>A MANE Select	ENSP00000356399.4:p.Pro1166Gln
ENST00000367429.8:c.3497C>A	ENSP00000356399.4:p.Pro1166Gln
ENST00000466229.5:n.6595C>A
NM_000186.3:c.3497C>A , LRG_47t1:c.3497C>A	NP_000177.2:p.Pro1166Gln
XR_001737134.2:n.3683C>A
NM_000186.4:c.3497C>A MANE Select	NP_000177.2:p.Pro1166Gln