Canonical Allele Identifier: CA343988003

Gene: CFH

Linked Data

• MyVariant Identifiers: chr1:g.196716351A>T (hg19) ; chr1:g.196747221A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747221A>T , CM000663.2:g.196747221A>T	GRCh38
NC_000001.10:g.196716351A>T , CM000663.1:g.196716351A>T	GRCh37
NC_000001.9:g.194982974A>T	NCBI36
NG_007259.1:g.100211A>T , LRG_47:g.100211A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4632A>T
ENST00000695970.1:c.3430A>T	ENSP00000512297.1:p.Lys1144Ter
ENST00000695971.1:c.3583A>T	ENSP00000512298.1:p.Lys1195Ter
ENST00000695972.1:c.*681A>T	ENSP00000512299.1:n.*681A>T
ENST00000695973.1:c.*1968A>T	ENSP00000512300.1:n.*1968A>T
ENST00000695974.1:c.3427A>T	ENSP00000512301.1:p.Lys1143Ter
ENST00000695975.1:c.*1731A>T	ENSP00000512302.1:n.*1731A>T
ENST00000695976.1:c.3415A>T	ENSP00000512303.1:p.Lys1139Ter
ENST00000695981.1:c.3580+24A>T	ENSP00000512306.1:n.3580+24A>T
ENST00000695984.1:c.1612A>T	ENSP00000512309.1:p.Lys538Ter
ENST00000695986.1:c.*3255A>T	ENSP00000512311.1:n.*3255A>T
ENST00000695990.1:n.638A>T
ENST00000696026.1:c.*1886A>T	ENSP00000512335.1:n.*1886A>T
ENST00000696027.1:c.3598A>T	ENSP00000512336.1:p.Lys1200Ter
ENST00000696028.1:c.3532A>T	ENSP00000512337.1:p.Lys1178Ter
ENST00000696029.1:c.3598A>T	ENSP00000512338.1:p.Lys1200Ter
ENST00000696031.1:c.*3122A>T	ENSP00000512340.1:n.*3122A>T
ENST00000696032.1:c.3580+24A>T	ENSP00000512341.1:n.3580+24A>T
ENST00000696033.1:c.1160-32576A>T	ENSP00000512342.1:n.1160-32576A>T
ENST00000367429.9:c.3604A>T MANE Select	ENSP00000356399.4:p.Lys1202Ter
ENST00000367429.8:c.3604A>T	ENSP00000356399.4:p.Lys1202Ter
ENST00000466229.5:n.6702A>T
NM_000186.3:c.3604A>T , LRG_47t1:c.3604A>T	NP_000177.2:p.Lys1202Ter
XR_001737134.2:n.3790A>T
NM_000186.4:c.3604A>T MANE Select	NP_000177.2:p.Lys1202Ter