Canonical Allele Identifier: CA343983964

Gene: CFH

Linked Data

• MyVariant Identifiers: chr1:g.196712722T>G (hg19) ; chr1:g.196743592T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196743592T>G , CM000663.2:g.196743592T>G	GRCh38
NC_000001.10:g.196712722T>G , CM000663.1:g.196712722T>G	GRCh37
NC_000001.9:g.194979345T>G	NCBI36
NG_007259.1:g.96582T>G , LRG_47:g.96582T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4302T>G
ENST00000695970.1:c.3100T>G	ENSP00000512297.1:p.Leu1034Val
ENST00000695971.1:c.3253T>G	ENSP00000512298.1:p.Leu1085Val
ENST00000695972.1:c.*351T>G	ENSP00000512299.1:n.*351T>G
ENST00000695973.1:c.*1638T>G	ENSP00000512300.1:n.*1638T>G
ENST00000695974.1:c.3097T>G	ENSP00000512301.1:p.Leu1033Val
ENST00000695975.1:c.*1401T>G	ENSP00000512302.1:n.*1401T>G
ENST00000695976.1:c.3085T>G	ENSP00000512303.1:p.Leu1029Val
ENST00000695981.1:c.3274T>G	ENSP00000512306.1:p.Leu1092Val
ENST00000695984.1:c.1282T>G	ENSP00000512309.1:p.Leu428Val
ENST00000695986.1:c.*2925T>G	ENSP00000512311.1:n.*2925T>G
ENST00000696026.1:c.*1556T>G	ENSP00000512335.1:n.*1556T>G
ENST00000696027.1:c.3268T>G	ENSP00000512336.1:p.Leu1090Val
ENST00000696028.1:c.3202T>G	ENSP00000512337.1:p.Leu1068Val
ENST00000696029.1:c.3268T>G	ENSP00000512338.1:p.Leu1090Val
ENST00000696031.1:c.*2792T>G	ENSP00000512340.1:n.*2792T>G
ENST00000696032.1:c.3274T>G	ENSP00000512341.1:p.Leu1092Val
ENST00000696033.1:c.1160-36205T>G	ENSP00000512342.1:n.1160-36205T>G
ENST00000367429.9:c.3274T>G MANE Select	ENSP00000356399.4:p.Leu1092Val
ENST00000367429.8:c.3274T>G	ENSP00000356399.4:p.Leu1092Val
ENST00000466229.5:n.6372T>G
NM_000186.3:c.3274T>G , LRG_47t1:c.3274T>G	NP_000177.2:p.Leu1092Val
XR_001737134.2:n.3460T>G
NM_000186.4:c.3274T>G MANE Select	NP_000177.2:p.Leu1092Val