Canonical Allele Identifier: CA1305979

Gene: CFH

Linked Data

• dbSNP Id: rs572092063
• ExAC: 1:196716282 A / T
• gnomAD v2: 1-196716282-A-T
• gnomAD v3: 1-196747152-A-T
• gnomAD v4: 1-196747152-A-T
• MyVariant Identifiers: chr1:g.196716282A>T (hg19) ; chr1:g.196747152A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747152A>T , CM000663.2:g.196747152A>T	GRCh38
NC_000001.10:g.196716282A>T , CM000663.1:g.196716282A>T	GRCh37
NC_000001.9:g.194982905A>T	NCBI36
NG_007259.1:g.100142A>T , LRG_47:g.100142A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000470918.2:n.4563A>T
ENST00000695970.1:c.3361A>T	ENSP00000512297.1:p.Ile1121Leu
ENST00000695971.1:c.3514A>T	ENSP00000512298.1:p.Ile1172Leu
ENST00000695972.1:c.*612A>T	ENSP00000512299.1:n.*612A>T
ENST00000695973.1:c.*1899A>T	ENSP00000512300.1:n.*1899A>T
ENST00000695974.1:c.3358A>T	ENSP00000512301.1:p.Ile1120Leu
ENST00000695975.1:c.*1662A>T	ENSP00000512302.1:n.*1662A>T
ENST00000695976.1:c.3346A>T	ENSP00000512303.1:p.Ile1116Leu
ENST00000695981.1:c.3535A>T	ENSP00000512306.1:p.Ile1179Leu
ENST00000695984.1:c.1543A>T	ENSP00000512309.1:p.Ile515Leu
ENST00000695986.1:c.*3186A>T	ENSP00000512311.1:n.*3186A>T
ENST00000695990.1:n.569A>T
ENST00000696026.1:c.*1817A>T	ENSP00000512335.1:n.*1817A>T
ENST00000696027.1:c.3529A>T	ENSP00000512336.1:p.Ile1177Leu
ENST00000696028.1:c.3463A>T	ENSP00000512337.1:p.Ile1155Leu
ENST00000696029.1:c.3529A>T	ENSP00000512338.1:p.Ile1177Leu
ENST00000696031.1:c.*3053A>T	ENSP00000512340.1:n.*3053A>T
ENST00000696032.1:c.3535A>T	ENSP00000512341.1:p.Ile1179Leu
ENST00000696033.1:c.1160-32645A>T	ENSP00000512342.1:n.1160-32645A>T
ENST00000367429.9:c.3535A>T MANE Select	ENSP00000356399.4:p.Ile1179Leu
ENST00000367429.8:c.3535A>T	ENSP00000356399.4:p.Ile1179Leu
ENST00000466229.5:n.6633A>T
NM_000186.3:c.3535A>T , LRG_47t1:c.3535A>T	NP_000177.2:p.Ile1179Leu
XR_001737134.2:n.3721A>T
NM_000186.4:c.3535A>T MANE Select	NP_000177.2:p.Ile1179Leu