Canonical Allele Identifier: CA343987640

Gene: CFH

Linked Data

• MyVariant Identifiers: chr1:g.196716315T>G (hg19) ; chr1:g.196747185T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747185T>G , CM000663.2:g.196747185T>G	GRCh38
NC_000001.10:g.196716315T>G , CM000663.1:g.196716315T>G	GRCh37
NC_000001.9:g.194982938T>G	NCBI36
NG_007259.1:g.100175T>G , LRG_47:g.100175T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000470918.2:n.4596T>G
ENST00000695970.1:c.3394T>G	ENSP00000512297.1:p.Tyr1132Asp
ENST00000695971.1:c.3547T>G	ENSP00000512298.1:p.Tyr1183Asp
ENST00000695972.1:c.*645T>G	ENSP00000512299.1:n.*645T>G
ENST00000695973.1:c.*1932T>G	ENSP00000512300.1:n.*1932T>G
ENST00000695974.1:c.3391T>G	ENSP00000512301.1:p.Tyr1131Asp
ENST00000695975.1:c.*1695T>G	ENSP00000512302.1:n.*1695T>G
ENST00000695976.1:c.3379T>G	ENSP00000512303.1:p.Tyr1127Asp
ENST00000695981.1:c.3568T>G	ENSP00000512306.1:p.Tyr1190Asp
ENST00000695984.1:c.1576T>G	ENSP00000512309.1:p.Tyr526Asp
ENST00000695986.1:c.*3219T>G	ENSP00000512311.1:n.*3219T>G
ENST00000695990.1:n.602T>G
ENST00000696026.1:c.*1850T>G	ENSP00000512335.1:n.*1850T>G
ENST00000696027.1:c.3562T>G	ENSP00000512336.1:p.Tyr1188Asp
ENST00000696028.1:c.3496T>G	ENSP00000512337.1:p.Tyr1166Asp
ENST00000696029.1:c.3562T>G	ENSP00000512338.1:p.Tyr1188Asp
ENST00000696031.1:c.*3086T>G	ENSP00000512340.1:n.*3086T>G
ENST00000696032.1:c.3568T>G	ENSP00000512341.1:p.Tyr1190Asp
ENST00000696033.1:c.1160-32612T>G	ENSP00000512342.1:n.1160-32612T>G
ENST00000367429.9:c.3568T>G MANE Select	ENSP00000356399.4:p.Tyr1190Asp
ENST00000367429.8:c.3568T>G	ENSP00000356399.4:p.Tyr1190Asp
ENST00000466229.5:n.6666T>G
NM_000186.3:c.3568T>G , LRG_47t1:c.3568T>G	NP_000177.2:p.Tyr1190Asp
XR_001737134.2:n.3754T>G
NM_000186.4:c.3568T>G MANE Select	NP_000177.2:p.Tyr1190Asp