Canonical Allele Identifier: CA422663514

Gene: CFH

Linked Data

• dbSNP Id: rs1164010446
• gnomAD v2: 1-196716302-C-A
• gnomAD v4: 1-196747172-C-A
• MyVariant Identifiers: chr1:g.196716302C>A (hg19) ; chr1:g.196747172C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747172C>A , CM000663.2:g.196747172C>A	GRCh38
NC_000001.10:g.196716302C>A , CM000663.1:g.196716302C>A	GRCh37
NC_000001.9:g.194982925C>A	NCBI36
NG_007259.1:g.100162C>A , LRG_47:g.100162C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000470918.2:n.4583C>A
ENST00000695970.1:c.3381C>A	ENSP00000512297.1:p.Ala1127=
ENST00000695971.1:c.3534C>A	ENSP00000512298.1:p.Ala1178=
ENST00000695972.1:c.*632C>A	ENSP00000512299.1:n.*632C>A
ENST00000695973.1:c.*1919C>A	ENSP00000512300.1:n.*1919C>A
ENST00000695974.1:c.3378C>A	ENSP00000512301.1:p.Ala1126=
ENST00000695975.1:c.*1682C>A	ENSP00000512302.1:n.*1682C>A
ENST00000695976.1:c.3366C>A	ENSP00000512303.1:p.Ala1122=
ENST00000695981.1:c.3555C>A	ENSP00000512306.1:p.Ala1185=
ENST00000695984.1:c.1563C>A	ENSP00000512309.1:p.Ala521=
ENST00000695986.1:c.*3206C>A	ENSP00000512311.1:n.*3206C>A
ENST00000695990.1:n.589C>A
ENST00000696026.1:c.*1837C>A	ENSP00000512335.1:n.*1837C>A
ENST00000696027.1:c.3549C>A	ENSP00000512336.1:p.Ala1183=
ENST00000696028.1:c.3483C>A	ENSP00000512337.1:p.Ala1161=
ENST00000696029.1:c.3549C>A	ENSP00000512338.1:p.Ala1183=
ENST00000696031.1:c.*3073C>A	ENSP00000512340.1:n.*3073C>A
ENST00000696032.1:c.3555C>A	ENSP00000512341.1:p.Ala1185=
ENST00000696033.1:c.1160-32625C>A	ENSP00000512342.1:n.1160-32625C>A
ENST00000367429.9:c.3555C>A MANE Select	ENSP00000356399.4:p.Ala1185=
ENST00000367429.8:c.3555C>A	ENSP00000356399.4:p.Ala1185=
ENST00000466229.5:n.6653C>A
NM_000186.3:c.3555C>A , LRG_47t1:c.3555C>A	NP_000177.2:p.Ala1185=
XR_001737134.2:n.3741C>A
NM_000186.4:c.3555C>A MANE Select	NP_000177.2:p.Ala1185=