Canonical Allele Identifier: CA343987623

Gene: CFH

Linked Data

• MyVariant Identifiers: chr1:g.196716313T>C (hg19) ; chr1:g.196747183T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747183T>C , CM000663.2:g.196747183T>C	GRCh38
NC_000001.10:g.196716313T>C , CM000663.1:g.196716313T>C	GRCh37
NC_000001.9:g.194982936T>C	NCBI36
NG_007259.1:g.100173T>C , LRG_47:g.100173T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000470918.2:n.4594T>C
ENST00000695970.1:c.3392T>C	ENSP00000512297.1:p.Leu1131Pro
ENST00000695971.1:c.3545T>C	ENSP00000512298.1:p.Leu1182Pro
ENST00000695972.1:c.*643T>C	ENSP00000512299.1:n.*643T>C
ENST00000695973.1:c.*1930T>C	ENSP00000512300.1:n.*1930T>C
ENST00000695974.1:c.3389T>C	ENSP00000512301.1:p.Leu1130Pro
ENST00000695975.1:c.*1693T>C	ENSP00000512302.1:n.*1693T>C
ENST00000695976.1:c.3377T>C	ENSP00000512303.1:p.Leu1126Pro
ENST00000695981.1:c.3566T>C	ENSP00000512306.1:p.Leu1189Pro
ENST00000695984.1:c.1574T>C	ENSP00000512309.1:p.Leu525Pro
ENST00000695986.1:c.*3217T>C	ENSP00000512311.1:n.*3217T>C
ENST00000695990.1:n.600T>C
ENST00000696026.1:c.*1848T>C	ENSP00000512335.1:n.*1848T>C
ENST00000696027.1:c.3560T>C	ENSP00000512336.1:p.Leu1187Pro
ENST00000696028.1:c.3494T>C	ENSP00000512337.1:p.Leu1165Pro
ENST00000696029.1:c.3560T>C	ENSP00000512338.1:p.Leu1187Pro
ENST00000696031.1:c.*3084T>C	ENSP00000512340.1:n.*3084T>C
ENST00000696032.1:c.3566T>C	ENSP00000512341.1:p.Leu1189Pro
ENST00000696033.1:c.1160-32614T>C	ENSP00000512342.1:n.1160-32614T>C
ENST00000367429.9:c.3566T>C MANE Select	ENSP00000356399.4:p.Leu1189Pro
ENST00000367429.8:c.3566T>C	ENSP00000356399.4:p.Leu1189Pro
ENST00000466229.5:n.6664T>C
NM_000186.3:c.3566T>C , LRG_47t1:c.3566T>C	NP_000177.2:p.Leu1189Pro
XR_001737134.2:n.3752T>C
NM_000186.4:c.3566T>C MANE Select	NP_000177.2:p.Leu1189Pro