Canonical Allele Identifier: CA343982823

Gene: CFH

Linked Data

• MyVariant Identifiers: chr1:g.196712594T>G (hg19) ; chr1:g.196743464T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196743464T>G , CM000663.2:g.196743464T>G	GRCh38
NC_000001.10:g.196712594T>G , CM000663.1:g.196712594T>G	GRCh37
NC_000001.9:g.194979217T>G	NCBI36
NG_007259.1:g.96454T>G , LRG_47:g.96454T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000470918.2:n.4174T>G
ENST00000695970.1:c.2972T>G	ENSP00000512297.1:p.Val991Gly
ENST00000695971.1:c.3125T>G	ENSP00000512298.1:p.Val1042Gly
ENST00000695972.1:c.*223T>G	ENSP00000512299.1:n.*223T>G
ENST00000695973.1:c.*1510T>G	ENSP00000512300.1:n.*1510T>G
ENST00000695974.1:c.2969T>G	ENSP00000512301.1:p.Val990Gly
ENST00000695975.1:c.*1273T>G	ENSP00000512302.1:n.*1273T>G
ENST00000695976.1:c.2957T>G	ENSP00000512303.1:p.Val986Gly
ENST00000695981.1:c.3146T>G	ENSP00000512306.1:p.Val1049Gly
ENST00000695984.1:c.1154T>G	ENSP00000512309.1:p.Val385Gly
ENST00000695986.1:c.*2797T>G	ENSP00000512311.1:n.*2797T>G
ENST00000696026.1:c.*1428T>G	ENSP00000512335.1:n.*1428T>G
ENST00000696027.1:c.3140T>G	ENSP00000512336.1:p.Val1047Gly
ENST00000696028.1:c.3074T>G	ENSP00000512337.1:p.Val1025Gly
ENST00000696029.1:c.3140T>G	ENSP00000512338.1:p.Val1047Gly
ENST00000696031.1:c.*2664T>G	ENSP00000512340.1:n.*2664T>G
ENST00000696032.1:c.3146T>G	ENSP00000512341.1:p.Val1049Gly
ENST00000696033.1:c.1160-36333T>G	ENSP00000512342.1:n.1160-36333T>G
ENST00000367429.9:c.3146T>G MANE Select	ENSP00000356399.4:p.Val1049Gly
ENST00000367429.8:c.3146T>G	ENSP00000356399.4:p.Val1049Gly
ENST00000466229.5:n.6244T>G
NM_000186.3:c.3146T>G , LRG_47t1:c.3146T>G	NP_000177.2:p.Val1049Gly
XR_001737134.2:n.3332T>G
NM_000186.4:c.3146T>G MANE Select	NP_000177.2:p.Val1049Gly