Canonical Allele Identifier: CA343984018

Gene: CFH

Linked Data

• MyVariant Identifiers: chr1:g.196712732A>T (hg19) ; chr1:g.196743602A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196743602A>T , CM000663.2:g.196743602A>T	GRCh38
NC_000001.10:g.196712732A>T , CM000663.1:g.196712732A>T	GRCh37
NC_000001.9:g.194979355A>T	NCBI36
NG_007259.1:g.96592A>T , LRG_47:g.96592A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4312A>T
ENST00000695970.1:c.3110A>T	ENSP00000512297.1:p.Asn1037Ile
ENST00000695971.1:c.3263A>T	ENSP00000512298.1:p.Asn1088Ile
ENST00000695972.1:c.*361A>T	ENSP00000512299.1:n.*361A>T
ENST00000695973.1:c.*1648A>T	ENSP00000512300.1:n.*1648A>T
ENST00000695974.1:c.3107A>T	ENSP00000512301.1:p.Asn1036Ile
ENST00000695975.1:c.*1411A>T	ENSP00000512302.1:n.*1411A>T
ENST00000695976.1:c.3095A>T	ENSP00000512303.1:p.Asn1032Ile
ENST00000695981.1:c.3284A>T	ENSP00000512306.1:p.Asn1095Ile
ENST00000695984.1:c.1292A>T	ENSP00000512309.1:p.Asn431Ile
ENST00000695986.1:c.*2935A>T	ENSP00000512311.1:n.*2935A>T
ENST00000696026.1:c.*1566A>T	ENSP00000512335.1:n.*1566A>T
ENST00000696027.1:c.3278A>T	ENSP00000512336.1:p.Asn1093Ile
ENST00000696028.1:c.3212A>T	ENSP00000512337.1:p.Asn1071Ile
ENST00000696029.1:c.3278A>T	ENSP00000512338.1:p.Asn1093Ile
ENST00000696031.1:c.*2802A>T	ENSP00000512340.1:n.*2802A>T
ENST00000696032.1:c.3284A>T	ENSP00000512341.1:p.Asn1095Ile
ENST00000696033.1:c.1160-36195A>T	ENSP00000512342.1:n.1160-36195A>T
ENST00000367429.9:c.3284A>T MANE Select	ENSP00000356399.4:p.Asn1095Ile
ENST00000367429.8:c.3284A>T	ENSP00000356399.4:p.Asn1095Ile
ENST00000466229.5:n.6382A>T
NM_000186.3:c.3284A>T , LRG_47t1:c.3284A>T	NP_000177.2:p.Asn1095Ile
XR_001737134.2:n.3470A>T
NM_000186.4:c.3284A>T MANE Select	NP_000177.2:p.Asn1095Ile