Canonical Allele Identifier: CA343983767

Gene: CFH

Linked Data

• MyVariant Identifiers: chr1:g.196712690A>T (hg19) ; chr1:g.196743560A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196743560A>T , CM000663.2:g.196743560A>T	GRCh38
NC_000001.10:g.196712690A>T , CM000663.1:g.196712690A>T	GRCh37
NC_000001.9:g.194979313A>T	NCBI36
NG_007259.1:g.96550A>T , LRG_47:g.96550A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000470918.2:n.4270A>T
ENST00000695970.1:c.3068A>T	ENSP00000512297.1:p.Tyr1023Phe
ENST00000695971.1:c.3221A>T	ENSP00000512298.1:p.Tyr1074Phe
ENST00000695972.1:c.*319A>T	ENSP00000512299.1:n.*319A>T
ENST00000695973.1:c.*1606A>T	ENSP00000512300.1:n.*1606A>T
ENST00000695974.1:c.3065A>T	ENSP00000512301.1:p.Tyr1022Phe
ENST00000695975.1:c.*1369A>T	ENSP00000512302.1:n.*1369A>T
ENST00000695976.1:c.3053A>T	ENSP00000512303.1:p.Tyr1018Phe
ENST00000695981.1:c.3242A>T	ENSP00000512306.1:p.Tyr1081Phe
ENST00000695984.1:c.1250A>T	ENSP00000512309.1:p.Tyr417Phe
ENST00000695986.1:c.*2893A>T	ENSP00000512311.1:n.*2893A>T
ENST00000696026.1:c.*1524A>T	ENSP00000512335.1:n.*1524A>T
ENST00000696027.1:c.3236A>T	ENSP00000512336.1:p.Tyr1079Phe
ENST00000696028.1:c.3170A>T	ENSP00000512337.1:p.Tyr1057Phe
ENST00000696029.1:c.3236A>T	ENSP00000512338.1:p.Tyr1079Phe
ENST00000696031.1:c.*2760A>T	ENSP00000512340.1:n.*2760A>T
ENST00000696032.1:c.3242A>T	ENSP00000512341.1:p.Tyr1081Phe
ENST00000696033.1:c.1160-36237A>T	ENSP00000512342.1:n.1160-36237A>T
ENST00000367429.9:c.3242A>T MANE Select	ENSP00000356399.4:p.Tyr1081Phe
ENST00000367429.8:c.3242A>T	ENSP00000356399.4:p.Tyr1081Phe
ENST00000466229.5:n.6340A>T
NM_000186.3:c.3242A>T , LRG_47t1:c.3242A>T	NP_000177.2:p.Tyr1081Phe
XR_001737134.2:n.3428A>T
NM_000186.4:c.3242A>T MANE Select	NP_000177.2:p.Tyr1081Phe