Canonical Allele Identifier: CA343988212

Gene: CFH

Linked Data

• MyVariant Identifiers: chr1:g.196716388T>G (hg19) ; chr1:g.196747258T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747258T>G , CM000663.2:g.196747258T>G	GRCh38
NC_000001.10:g.196716388T>G , CM000663.1:g.196716388T>G	GRCh37
NC_000001.9:g.194983011T>G	NCBI36
NG_007259.1:g.100248T>G , LRG_47:g.100248T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4669T>G
ENST00000695970.1:c.3467T>G	ENSP00000512297.1:p.Leu1156Trp
ENST00000695971.1:c.3620T>G	ENSP00000512298.1:p.Leu1207Trp
ENST00000695972.1:c.*718T>G	ENSP00000512299.1:n.*718T>G
ENST00000695973.1:c.*2005T>G	ENSP00000512300.1:n.*2005T>G
ENST00000695974.1:c.3464T>G	ENSP00000512301.1:p.Leu1155Trp
ENST00000695975.1:c.*1768T>G	ENSP00000512302.1:n.*1768T>G
ENST00000695976.1:c.3452T>G	ENSP00000512303.1:p.Leu1151Trp
ENST00000695981.1:c.3580+61T>G	ENSP00000512306.1:n.3580+61T>G
ENST00000695984.1:c.1649T>G	ENSP00000512309.1:p.Leu550Trp
ENST00000695986.1:c.*3292T>G	ENSP00000512311.1:n.*3292T>G
ENST00000695990.1:n.675T>G
ENST00000696026.1:c.*1923T>G	ENSP00000512335.1:n.*1923T>G
ENST00000696027.1:c.3635T>G	ENSP00000512336.1:p.Leu1212Trp
ENST00000696028.1:c.3569T>G	ENSP00000512337.1:p.Leu1190Trp
ENST00000696029.1:c.3635T>G	ENSP00000512338.1:p.Leu1212Trp
ENST00000696031.1:c.*3159T>G	ENSP00000512340.1:n.*3159T>G
ENST00000696032.1:c.3580+61T>G	ENSP00000512341.1:n.3580+61T>G
ENST00000696033.1:c.1160-32539T>G	ENSP00000512342.1:n.1160-32539T>G
ENST00000367429.9:c.3641T>G MANE Select	ENSP00000356399.4:p.Leu1214Trp
ENST00000367429.8:c.3641T>G	ENSP00000356399.4:p.Leu1214Trp
ENST00000466229.5:n.6739T>G
NM_000186.3:c.3641T>G , LRG_47t1:c.3641T>G	NP_000177.2:p.Leu1214Trp
XR_001737134.2:n.3827T>G
NM_000186.4:c.3641T>G MANE Select	NP_000177.2:p.Leu1214Trp