Canonical Allele Identifier: CA343983973

Gene: CFH

Linked Data

• gnomAD v4: 1-196743594-A-T
• MyVariant Identifiers: chr1:g.196712724A>T (hg19) ; chr1:g.196743594A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196743594A>T , CM000663.2:g.196743594A>T	GRCh38
NC_000001.10:g.196712724A>T , CM000663.1:g.196712724A>T	GRCh37
NC_000001.9:g.194979347A>T	NCBI36
NG_007259.1:g.96584A>T , LRG_47:g.96584A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4304A>T
ENST00000695970.1:c.3102A>T	ENSP00000512297.1:p.Leu1034Phe
ENST00000695971.1:c.3255A>T	ENSP00000512298.1:p.Leu1085Phe
ENST00000695972.1:c.*353A>T	ENSP00000512299.1:n.*353A>T
ENST00000695973.1:c.*1640A>T	ENSP00000512300.1:n.*1640A>T
ENST00000695974.1:c.3099A>T	ENSP00000512301.1:p.Leu1033Phe
ENST00000695975.1:c.*1403A>T	ENSP00000512302.1:n.*1403A>T
ENST00000695976.1:c.3087A>T	ENSP00000512303.1:p.Leu1029Phe
ENST00000695981.1:c.3276A>T	ENSP00000512306.1:p.Leu1092Phe
ENST00000695984.1:c.1284A>T	ENSP00000512309.1:p.Leu428Phe
ENST00000695986.1:c.*2927A>T	ENSP00000512311.1:n.*2927A>T
ENST00000696026.1:c.*1558A>T	ENSP00000512335.1:n.*1558A>T
ENST00000696027.1:c.3270A>T	ENSP00000512336.1:p.Leu1090Phe
ENST00000696028.1:c.3204A>T	ENSP00000512337.1:p.Leu1068Phe
ENST00000696029.1:c.3270A>T	ENSP00000512338.1:p.Leu1090Phe
ENST00000696031.1:c.*2794A>T	ENSP00000512340.1:n.*2794A>T
ENST00000696032.1:c.3276A>T	ENSP00000512341.1:p.Leu1092Phe
ENST00000696033.1:c.1160-36203A>T	ENSP00000512342.1:n.1160-36203A>T
ENST00000367429.9:c.3276A>T MANE Select	ENSP00000356399.4:p.Leu1092Phe
ENST00000367429.8:c.3276A>T	ENSP00000356399.4:p.Leu1092Phe
ENST00000466229.5:n.6374A>T
NM_000186.3:c.3276A>T , LRG_47t1:c.3276A>T	NP_000177.2:p.Leu1092Phe
XR_001737134.2:n.3462A>T
NM_000186.4:c.3276A>T MANE Select	NP_000177.2:p.Leu1092Phe