Canonical Allele Identifier: CA343981915

Gene: CFH

Linked Data

• dbSNP Id: rs200608085
• gnomAD v4: 1-196713813-A-T
• MyVariant Identifiers: chr1:g.196682943A>T (hg19) ; chr1:g.196713813A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196713813A>T , CM000663.2:g.196713813A>T	GRCh38
NC_000001.10:g.196682943A>T , CM000663.1:g.196682943A>T	GRCh37
NC_000001.9:g.194949566A>T	NCBI36
NG_007259.1:g.66803A>T , LRG_47:g.66803A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.1681A>T
ENST00000695969.1:c.1415A>T	ENSP00000512296.1:p.Lys472Ile
ENST00000695970.1:c.1415A>T	ENSP00000512297.1:p.Lys472Ile
ENST00000695971.1:c.1394A>T	ENSP00000512298.1:p.Lys465Ile
ENST00000695972.1:c.1415A>T	ENSP00000512299.1:p.Lys472Ile
ENST00000695973.1:c.1415A>T	ENSP00000512300.1:p.Lys472Ile
ENST00000695974.1:c.1415A>T	ENSP00000512301.1:p.Lys472Ile
ENST00000695975.1:c.1415A>T	ENSP00000512302.1:p.Lys472Ile
ENST00000695976.1:c.1226A>T	ENSP00000512303.1:p.Lys409Ile
ENST00000695981.1:c.1415A>T	ENSP00000512306.1:p.Lys472Ile
ENST00000695983.1:c.1415A>T	ENSP00000512308.1:p.Lys472Ile
ENST00000695984.1:c.245-14533A>T	ENSP00000512309.1:n.245-14533A>T
ENST00000695986.1:c.*1066A>T	ENSP00000512311.1:n.*1066A>T
ENST00000696024.1:n.1499A>T
ENST00000696025.1:n.1499A>T
ENST00000696026.1:c.1415A>T	ENSP00000512335.1:p.Lys472Ile
ENST00000696027.1:c.1415A>T	ENSP00000512336.1:p.Lys472Ile
ENST00000696028.1:c.1415A>T	ENSP00000512337.1:p.Lys472Ile
ENST00000696029.1:c.1415A>T	ENSP00000512338.1:p.Lys472Ile
ENST00000696031.1:c.*933A>T	ENSP00000512340.1:n.*933A>T
ENST00000696032.1:c.1415A>T	ENSP00000512341.1:p.Lys472Ile
ENST00000696033.1:c.1159+24199A>T	ENSP00000512342.1:n.1159+24199A>T
ENST00000367429.9:c.1415A>T MANE Select	ENSP00000356399.4:p.Lys472Ile
ENST00000367429.8:c.1415A>T	ENSP00000356399.4:p.Lys472Ile
ENST00000466229.5:n.3431A>T
NM_000186.3:c.1415A>T , LRG_47t1:c.1415A>T	NP_000177.2:p.Lys472Ile
XR_001737134.2:n.1500A>T
NM_000186.4:c.1415A>T MANE Select	NP_000177.2:p.Lys472Ile