Canonical Allele Identifier: CA1305978

Gene: CFH

Linked Data

• dbSNP Id: rs374657389
• ExAC: 1:196716266 T / C
• gnomAD v4: 1-196747136-T-C
• MyVariant Identifiers: chr1:g.196716266T>C (hg19) ; chr1:g.196747136T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747136T>C , CM000663.2:g.196747136T>C	GRCh38
NC_000001.10:g.196716266T>C , CM000663.1:g.196716266T>C	GRCh37
NC_000001.9:g.194982889T>C	NCBI36
NG_007259.1:g.100126T>C , LRG_47:g.100126T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000470918.2:n.4547T>C
ENST00000695970.1:c.3345T>C	ENSP00000512297.1:p.Ile1115=
ENST00000695971.1:c.3498T>C	ENSP00000512298.1:p.Ile1166=
ENST00000695972.1:c.*596T>C	ENSP00000512299.1:n.*596T>C
ENST00000695973.1:c.*1883T>C	ENSP00000512300.1:n.*1883T>C
ENST00000695974.1:c.3342T>C	ENSP00000512301.1:p.Ile1114=
ENST00000695975.1:c.*1646T>C	ENSP00000512302.1:n.*1646T>C
ENST00000695976.1:c.3330T>C	ENSP00000512303.1:p.Ile1110=
ENST00000695981.1:c.3519T>C	ENSP00000512306.1:p.Ile1173=
ENST00000695984.1:c.1527T>C	ENSP00000512309.1:p.Ile509=
ENST00000695986.1:c.*3170T>C	ENSP00000512311.1:n.*3170T>C
ENST00000695990.1:n.553T>C
ENST00000696026.1:c.*1801T>C	ENSP00000512335.1:n.*1801T>C
ENST00000696027.1:c.3513T>C	ENSP00000512336.1:p.Ile1171=
ENST00000696028.1:c.3447T>C	ENSP00000512337.1:p.Ile1149=
ENST00000696029.1:c.3513T>C	ENSP00000512338.1:p.Ile1171=
ENST00000696031.1:c.*3037T>C	ENSP00000512340.1:n.*3037T>C
ENST00000696032.1:c.3519T>C	ENSP00000512341.1:p.Ile1173=
ENST00000696033.1:c.1160-32661T>C	ENSP00000512342.1:n.1160-32661T>C
ENST00000367429.9:c.3519T>C MANE Select	ENSP00000356399.4:p.Ile1173=
ENST00000367429.8:c.3519T>C	ENSP00000356399.4:p.Ile1173=
ENST00000466229.5:n.6617T>C
NM_000186.3:c.3519T>C , LRG_47t1:c.3519T>C	NP_000177.2:p.Ile1173=
XR_001737134.2:n.3705T>C
NM_000186.4:c.3519T>C MANE Select	NP_000177.2:p.Ile1173=