Canonical Allele Identifier: CA1305973

Gene: CFH

Linked Data

• dbSNP Id: rs757940049
• ExAC: 1:196716223 A / T
• gnomAD v2: 1-196716223-A-T
• gnomAD v4: 1-196747093-A-T
• MyVariant Identifiers: chr1:g.196716223A>T (hg19) ; chr1:g.196747093A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747093A>T , CM000663.2:g.196747093A>T	GRCh38
NC_000001.10:g.196716223A>T , CM000663.1:g.196716223A>T	GRCh37
NC_000001.9:g.194982846A>T	NCBI36
NG_007259.1:g.100083A>T , LRG_47:g.100083A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000470918.2:n.4522-18A>T
ENST00000695970.1:c.3320-18A>T	ENSP00000512297.1:n.3320-18A>T
ENST00000695971.1:c.3473-18A>T	ENSP00000512298.1:n.3473-18A>T
ENST00000695972.1:c.*571-18A>T	ENSP00000512299.1:n.*571-18A>T
ENST00000695973.1:c.*1858-18A>T	ENSP00000512300.1:n.*1858-18A>T
ENST00000695974.1:c.3317-18A>T	ENSP00000512301.1:n.3317-18A>T
ENST00000695975.1:c.*1621-18A>T	ENSP00000512302.1:n.*1621-18A>T
ENST00000695976.1:c.3305-18A>T	ENSP00000512303.1:n.3305-18A>T
ENST00000695981.1:c.3494-18A>T	ENSP00000512306.1:n.3494-18A>T
ENST00000695984.1:c.1502-18A>T	ENSP00000512309.1:n.1502-18A>T
ENST00000695986.1:c.*3145-18A>T	ENSP00000512311.1:n.*3145-18A>T
ENST00000695990.1:n.528-18A>T
ENST00000696026.1:c.*1776-18A>T	ENSP00000512335.1:n.*1776-18A>T
ENST00000696027.1:c.3488-18A>T	ENSP00000512336.1:n.3488-18A>T
ENST00000696028.1:c.3422-18A>T	ENSP00000512337.1:n.3422-18A>T
ENST00000696029.1:c.3488-18A>T	ENSP00000512338.1:n.3488-18A>T
ENST00000696031.1:c.*3012-18A>T	ENSP00000512340.1:n.*3012-18A>T
ENST00000696032.1:c.3494-18A>T	ENSP00000512341.1:n.3494-18A>T
ENST00000696033.1:c.1160-32704A>T	ENSP00000512342.1:n.1160-32704A>T
ENST00000367429.9:c.3494-18A>T MANE Select	ENSP00000356399.4:n.3494-18A>T
ENST00000367429.8:c.3494-18A>T	ENSP00000356399.4:n.3494-18A>T
ENST00000466229.5:n.6592-18A>T
NM_000186.3:c.3494-18A>T , LRG_47t1:c.3494-18A>T	NP_000177.2:n.3494-18A>T
XR_001737134.2:n.3680-18A>T
NM_000186.4:c.3494-18A>T MANE Select	NP_000177.2:n.3494-18A>T