Canonical Allele Identifier: CA343989254

Gene: CFH

Linked Data

• MyVariant Identifiers: chr1:g.196716414C>G (hg19) ; chr1:g.196747284C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747284C>G , CM000663.2:g.196747284C>G	GRCh38
NC_000001.10:g.196716414C>G , CM000663.1:g.196716414C>G	GRCh37
NC_000001.9:g.194983037C>G	NCBI36
NG_007259.1:g.100274C>G , LRG_47:g.100274C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000470918.2:n.4695C>G
ENST00000695970.1:c.3493C>G	ENSP00000512297.1:p.Leu1165Val
ENST00000695971.1:c.3646C>G	ENSP00000512298.1:p.Leu1216Val
ENST00000695972.1:c.*744C>G	ENSP00000512299.1:n.*744C>G
ENST00000695973.1:c.*2031C>G	ENSP00000512300.1:n.*2031C>G
ENST00000695974.1:c.3490C>G	ENSP00000512301.1:p.Leu1164Val
ENST00000695975.1:c.*1794C>G	ENSP00000512302.1:n.*1794C>G
ENST00000695976.1:c.3478C>G	ENSP00000512303.1:p.Leu1160Val
ENST00000695981.1:c.3580+87C>G	ENSP00000512306.1:n.3580+87C>G
ENST00000695984.1:c.1675C>G	ENSP00000512309.1:p.Leu559Val
ENST00000695986.1:c.*3318C>G	ENSP00000512311.1:n.*3318C>G
ENST00000695990.1:n.701C>G
ENST00000696026.1:c.*1949C>G	ENSP00000512335.1:n.*1949C>G
ENST00000696027.1:c.3661C>G	ENSP00000512336.1:p.Leu1221Val
ENST00000696028.1:c.3595C>G	ENSP00000512337.1:p.Leu1199Val
ENST00000696029.1:c.3661C>G	ENSP00000512338.1:p.Leu1221Val
ENST00000696031.1:c.*3185C>G	ENSP00000512340.1:n.*3185C>G
ENST00000696032.1:c.3580+87C>G	ENSP00000512341.1:n.3580+87C>G
ENST00000696033.1:c.1160-32513C>G	ENSP00000512342.1:n.1160-32513C>G
ENST00000367429.9:c.3667C>G MANE Select	ENSP00000356399.4:p.Leu1223Val
ENST00000367429.8:c.3667C>G	ENSP00000356399.4:p.Leu1223Val
ENST00000466229.5:n.6765C>G
NM_000186.3:c.3667C>G , LRG_47t1:c.3667C>G	NP_000177.2:p.Leu1223Val
XR_001737134.2:n.3853C>G
NM_000186.4:c.3667C>G MANE Select	NP_000177.2:p.Leu1223Val