Canonical Allele Identifier: CA1305875

Gene: CFH

Linked Data

• ClinVar Variation Id: 294523
• ClinVar RCV Id: RCV000280699 ; RCV000338097 ; RCV000391542 ; RCV000393996 ; RCV001699339 ; RCV001727671 ; RCV002480065 ; RCV003454856
• dbSNP Id: rs62641697
• ExAC: 1:196712655 T / C
• gnomAD v2: 1-196712655-T-C
• gnomAD v3: 1-196743525-T-C
• gnomAD v4: 1-196743525-T-C
• MyVariant Identifiers: chr1:g.196712655T>C (hg19) ; chr1:g.196743525T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196743525T>C , CM000663.2:g.196743525T>C	GRCh38
NC_000001.10:g.196712655T>C , CM000663.1:g.196712655T>C	GRCh37
NC_000001.9:g.194979278T>C	NCBI36
NG_007259.1:g.96515T>C , LRG_47:g.96515T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4235T>C
ENST00000695970.1:c.3033T>C	ENSP00000512297.1:p.Ser1011=
ENST00000695971.1:c.3186T>C	ENSP00000512298.1:p.Ser1062=
ENST00000695972.1:c.*284T>C	ENSP00000512299.1:n.*284T>C
ENST00000695973.1:c.*1571T>C	ENSP00000512300.1:n.*1571T>C
ENST00000695974.1:c.3030T>C	ENSP00000512301.1:p.Ser1010=
ENST00000695975.1:c.*1334T>C	ENSP00000512302.1:n.*1334T>C
ENST00000695976.1:c.3018T>C	ENSP00000512303.1:p.Ser1006=
ENST00000695981.1:c.3207T>C	ENSP00000512306.1:p.Ser1069=
ENST00000695984.1:c.1215T>C	ENSP00000512309.1:p.Ser405=
ENST00000695986.1:c.*2858T>C	ENSP00000512311.1:n.*2858T>C
ENST00000696026.1:c.*1489T>C	ENSP00000512335.1:n.*1489T>C
ENST00000696027.1:c.3201T>C	ENSP00000512336.1:p.Ser1067=
ENST00000696028.1:c.3135T>C	ENSP00000512337.1:p.Ser1045=
ENST00000696029.1:c.3201T>C	ENSP00000512338.1:p.Ser1067=
ENST00000696031.1:c.*2725T>C	ENSP00000512340.1:n.*2725T>C
ENST00000696032.1:c.3207T>C	ENSP00000512341.1:p.Ser1069=
ENST00000696033.1:c.1160-36272T>C	ENSP00000512342.1:n.1160-36272T>C
ENST00000367429.9:c.3207T>C MANE Select	ENSP00000356399.4:p.Ser1069=
ENST00000367429.8:c.3207T>C	ENSP00000356399.4:p.Ser1069=
ENST00000466229.5:n.6305T>C
NM_000186.3:c.3207T>C , LRG_47t1:c.3207T>C	NP_000177.2:p.Ser1069=
XR_001737134.2:n.3393T>C
NM_000186.4:c.3207T>C MANE Select	NP_000177.2:p.Ser1069=