Canonical Allele Identifier: CA343987299

Gene: CFH

Linked Data

• gnomAD v4: 1-196747153-T-C
• MyVariant Identifiers: chr1:g.196716283T>C (hg19) ; chr1:g.196747153T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747153T>C , CM000663.2:g.196747153T>C	GRCh38
NC_000001.10:g.196716283T>C , CM000663.1:g.196716283T>C	GRCh37
NC_000001.9:g.194982906T>C	NCBI36
NG_007259.1:g.100143T>C , LRG_47:g.100143T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4564T>C
ENST00000695970.1:c.3362T>C	ENSP00000512297.1:p.Ile1121Thr
ENST00000695971.1:c.3515T>C	ENSP00000512298.1:p.Ile1172Thr
ENST00000695972.1:c.*613T>C	ENSP00000512299.1:n.*613T>C
ENST00000695973.1:c.*1900T>C	ENSP00000512300.1:n.*1900T>C
ENST00000695974.1:c.3359T>C	ENSP00000512301.1:p.Ile1120Thr
ENST00000695975.1:c.*1663T>C	ENSP00000512302.1:n.*1663T>C
ENST00000695976.1:c.3347T>C	ENSP00000512303.1:p.Ile1116Thr
ENST00000695981.1:c.3536T>C	ENSP00000512306.1:p.Ile1179Thr
ENST00000695984.1:c.1544T>C	ENSP00000512309.1:p.Ile515Thr
ENST00000695986.1:c.*3187T>C	ENSP00000512311.1:n.*3187T>C
ENST00000695990.1:n.570T>C
ENST00000696026.1:c.*1818T>C	ENSP00000512335.1:n.*1818T>C
ENST00000696027.1:c.3530T>C	ENSP00000512336.1:p.Ile1177Thr
ENST00000696028.1:c.3464T>C	ENSP00000512337.1:p.Ile1155Thr
ENST00000696029.1:c.3530T>C	ENSP00000512338.1:p.Ile1177Thr
ENST00000696031.1:c.*3054T>C	ENSP00000512340.1:n.*3054T>C
ENST00000696032.1:c.3536T>C	ENSP00000512341.1:p.Ile1179Thr
ENST00000696033.1:c.1160-32644T>C	ENSP00000512342.1:n.1160-32644T>C
ENST00000367429.9:c.3536T>C MANE Select	ENSP00000356399.4:p.Ile1179Thr
ENST00000367429.8:c.3536T>C	ENSP00000356399.4:p.Ile1179Thr
ENST00000466229.5:n.6634T>C
NM_000186.3:c.3536T>C , LRG_47t1:c.3536T>C	NP_000177.2:p.Ile1179Thr
XR_001737134.2:n.3722T>C
NM_000186.4:c.3536T>C MANE Select	NP_000177.2:p.Ile1179Thr