Canonical Allele Identifier: CA1305974

Gene: CFH

Linked Data

• dbSNP Id: rs777500056
• ExAC: 1:196716226 G / A
• gnomAD v2: 1-196716226-G-A
• gnomAD v4: 1-196747096-G-A
• MyVariant Identifiers: chr1:g.196716226G>A (hg19) ; chr1:g.196747096G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747096G>A , CM000663.2:g.196747096G>A	GRCh38
NC_000001.10:g.196716226G>A , CM000663.1:g.196716226G>A	GRCh37
NC_000001.9:g.194982849G>A	NCBI36
NG_007259.1:g.100086G>A , LRG_47:g.100086G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000470918.2:n.4522-15G>A
ENST00000695970.1:c.3320-15G>A	ENSP00000512297.1:n.3320-15G>A
ENST00000695971.1:c.3473-15G>A	ENSP00000512298.1:n.3473-15G>A
ENST00000695972.1:c.*571-15G>A	ENSP00000512299.1:n.*571-15G>A
ENST00000695973.1:c.*1858-15G>A	ENSP00000512300.1:n.*1858-15G>A
ENST00000695974.1:c.3317-15G>A	ENSP00000512301.1:n.3317-15G>A
ENST00000695975.1:c.*1621-15G>A	ENSP00000512302.1:n.*1621-15G>A
ENST00000695976.1:c.3305-15G>A	ENSP00000512303.1:n.3305-15G>A
ENST00000695981.1:c.3494-15G>A	ENSP00000512306.1:n.3494-15G>A
ENST00000695984.1:c.1502-15G>A	ENSP00000512309.1:n.1502-15G>A
ENST00000695986.1:c.*3145-15G>A	ENSP00000512311.1:n.*3145-15G>A
ENST00000695990.1:n.528-15G>A
ENST00000696026.1:c.*1776-15G>A	ENSP00000512335.1:n.*1776-15G>A
ENST00000696027.1:c.3488-15G>A	ENSP00000512336.1:n.3488-15G>A
ENST00000696028.1:c.3422-15G>A	ENSP00000512337.1:n.3422-15G>A
ENST00000696029.1:c.3488-15G>A	ENSP00000512338.1:n.3488-15G>A
ENST00000696031.1:c.*3012-15G>A	ENSP00000512340.1:n.*3012-15G>A
ENST00000696032.1:c.3494-15G>A	ENSP00000512341.1:n.3494-15G>A
ENST00000696033.1:c.1160-32701G>A	ENSP00000512342.1:n.1160-32701G>A
ENST00000367429.9:c.3494-15G>A MANE Select	ENSP00000356399.4:n.3494-15G>A
ENST00000367429.8:c.3494-15G>A	ENSP00000356399.4:n.3494-15G>A
ENST00000466229.5:n.6592-15G>A
NM_000186.3:c.3494-15G>A , LRG_47t1:c.3494-15G>A	NP_000177.2:n.3494-15G>A
XR_001737134.2:n.3680-15G>A
NM_000186.4:c.3494-15G>A MANE Select	NP_000177.2:n.3494-15G>A