Canonical Allele Identifier: CA343986994

Gene: CFH

Linked Data

• gnomAD v4: 1-196747123-T-A
• MyVariant Identifiers: chr1:g.196716253T>A (hg19) ; chr1:g.196747123T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747123T>A , CM000663.2:g.196747123T>A	GRCh38
NC_000001.10:g.196716253T>A , CM000663.1:g.196716253T>A	GRCh37
NC_000001.9:g.194982876T>A	NCBI36
NG_007259.1:g.100113T>A , LRG_47:g.100113T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000470918.2:n.4534T>A
ENST00000695970.1:c.3332T>A	ENSP00000512297.1:p.Ile1111Lys
ENST00000695971.1:c.3485T>A	ENSP00000512298.1:p.Ile1162Lys
ENST00000695972.1:c.*583T>A	ENSP00000512299.1:n.*583T>A
ENST00000695973.1:c.*1870T>A	ENSP00000512300.1:n.*1870T>A
ENST00000695974.1:c.3329T>A	ENSP00000512301.1:p.Ile1110Lys
ENST00000695975.1:c.*1633T>A	ENSP00000512302.1:n.*1633T>A
ENST00000695976.1:c.3317T>A	ENSP00000512303.1:p.Ile1106Lys
ENST00000695981.1:c.3506T>A	ENSP00000512306.1:p.Ile1169Lys
ENST00000695984.1:c.1514T>A	ENSP00000512309.1:p.Ile505Lys
ENST00000695986.1:c.*3157T>A	ENSP00000512311.1:n.*3157T>A
ENST00000695990.1:n.540T>A
ENST00000696026.1:c.*1788T>A	ENSP00000512335.1:n.*1788T>A
ENST00000696027.1:c.3500T>A	ENSP00000512336.1:p.Ile1167Lys
ENST00000696028.1:c.3434T>A	ENSP00000512337.1:p.Ile1145Lys
ENST00000696029.1:c.3500T>A	ENSP00000512338.1:p.Ile1167Lys
ENST00000696031.1:c.*3024T>A	ENSP00000512340.1:n.*3024T>A
ENST00000696032.1:c.3506T>A	ENSP00000512341.1:p.Ile1169Lys
ENST00000696033.1:c.1160-32674T>A	ENSP00000512342.1:n.1160-32674T>A
ENST00000367429.9:c.3506T>A MANE Select	ENSP00000356399.4:p.Ile1169Lys
ENST00000367429.8:c.3506T>A	ENSP00000356399.4:p.Ile1169Lys
ENST00000466229.5:n.6604T>A
NM_000186.3:c.3506T>A , LRG_47t1:c.3506T>A	NP_000177.2:p.Ile1169Lys
XR_001737134.2:n.3692T>A
NM_000186.4:c.3506T>A MANE Select	NP_000177.2:p.Ile1169Lys