Canonical Allele Identifier: CA343983654

Gene: CFH

Linked Data

• MyVariant Identifiers: chr1:g.196712678G>T (hg19) ; chr1:g.196743548G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196743548G>T , CM000663.2:g.196743548G>T	GRCh38
NC_000001.10:g.196712678G>T , CM000663.1:g.196712678G>T	GRCh37
NC_000001.9:g.194979301G>T	NCBI36
NG_007259.1:g.96538G>T , LRG_47:g.96538G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4258G>T
ENST00000695970.1:c.3056G>T	ENSP00000512297.1:p.Cys1019Phe
ENST00000695971.1:c.3209G>T	ENSP00000512298.1:p.Cys1070Phe
ENST00000695972.1:c.*307G>T	ENSP00000512299.1:n.*307G>T
ENST00000695973.1:c.*1594G>T	ENSP00000512300.1:n.*1594G>T
ENST00000695974.1:c.3053G>T	ENSP00000512301.1:p.Cys1018Phe
ENST00000695975.1:c.*1357G>T	ENSP00000512302.1:n.*1357G>T
ENST00000695976.1:c.3041G>T	ENSP00000512303.1:p.Cys1014Phe
ENST00000695981.1:c.3230G>T	ENSP00000512306.1:p.Cys1077Phe
ENST00000695984.1:c.1238G>T	ENSP00000512309.1:p.Cys413Phe
ENST00000695986.1:c.*2881G>T	ENSP00000512311.1:n.*2881G>T
ENST00000696026.1:c.*1512G>T	ENSP00000512335.1:n.*1512G>T
ENST00000696027.1:c.3224G>T	ENSP00000512336.1:p.Cys1075Phe
ENST00000696028.1:c.3158G>T	ENSP00000512337.1:p.Cys1053Phe
ENST00000696029.1:c.3224G>T	ENSP00000512338.1:p.Cys1075Phe
ENST00000696031.1:c.*2748G>T	ENSP00000512340.1:n.*2748G>T
ENST00000696032.1:c.3230G>T	ENSP00000512341.1:p.Cys1077Phe
ENST00000696033.1:c.1160-36249G>T	ENSP00000512342.1:n.1160-36249G>T
ENST00000367429.9:c.3230G>T MANE Select	ENSP00000356399.4:p.Cys1077Phe
ENST00000367429.8:c.3230G>T	ENSP00000356399.4:p.Cys1077Phe
ENST00000466229.5:n.6328G>T
NM_000186.3:c.3230G>T , LRG_47t1:c.3230G>T	NP_000177.2:p.Cys1077Phe
XR_001737134.2:n.3416G>T
NM_000186.4:c.3230G>T MANE Select	NP_000177.2:p.Cys1077Phe