Canonical Allele Identifier: CA729697122

Gene: CFH

Linked Data

• dbSNP Id: rs1344167431
• gnomAD v4: 1-196747035-TCTACTTGAAAAC-T
• MyVariant Identifiers: chr1:g.196716166_196716177del (hg19) ; chr1:g.196747036_196747047del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747038_196747049del , CM000663.2:g.196747038_196747049del	GRCh38
NC_000001.10:g.196716168_196716179del , CM000663.1:g.196716168_196716179del	GRCh37
NC_000001.9:g.194982791_194982802del	NCBI36
NG_007259.1:g.100028_100039del , LRG_47:g.100028_100039del

Transcript Alleles

HGVS	Amino-acid change
ENST00000470918.2:n.4522-73_4522-62del
ENST00000695970.1:c.3320-73_3320-62del	ENSP00000512297.1:n.3320-73_3320-62del
ENST00000695971.1:c.3473-73_3473-62del	ENSP00000512298.1:n.3473-73_3473-62del
ENST00000695972.1:c.*571-73_*571-62del	ENSP00000512299.1:n.*571-73_*571-62del
ENST00000695973.1:c.*1858-73_*1858-62del	ENSP00000512300.1:n.*1858-73_*1858-62del
ENST00000695974.1:c.3317-73_3317-62del	ENSP00000512301.1:n.3317-73_3317-62del
ENST00000695975.1:c.*1621-73_*1621-62del	ENSP00000512302.1:n.*1621-73_*1621-62del
ENST00000695976.1:c.3305-73_3305-62del	ENSP00000512303.1:n.3305-73_3305-62del
ENST00000695981.1:c.3494-73_3494-62del	ENSP00000512306.1:n.3494-73_3494-62del
ENST00000695984.1:c.1502-73_1502-62del	ENSP00000512309.1:n.1502-73_1502-62del
ENST00000695986.1:c.*3145-73_*3145-62del	ENSP00000512311.1:n.*3145-73_*3145-62del
ENST00000695990.1:n.528-73_528-62del
ENST00000696026.1:c.*1776-73_*1776-62del	ENSP00000512335.1:n.*1776-73_*1776-62del
ENST00000696027.1:c.3488-73_3488-62del	ENSP00000512336.1:n.3488-73_3488-62del
ENST00000696028.1:c.3422-73_3422-62del	ENSP00000512337.1:n.3422-73_3422-62del
ENST00000696029.1:c.3488-73_3488-62del	ENSP00000512338.1:n.3488-73_3488-62del
ENST00000696031.1:c.*3012-73_*3012-62del	ENSP00000512340.1:n.*3012-73_*3012-62del
ENST00000696032.1:c.3494-73_3494-62del	ENSP00000512341.1:n.3494-73_3494-62del
ENST00000696033.1:c.1160-32759_1160-32748del	ENSP00000512342.1:n.1160-32759_1160-32748...
ENST00000367429.9:c.3494-73_3494-62del MANE Select	ENSP00000356399.4:n.3494-73_3494-62del
ENST00000367429.8:c.3494-73_3494-62del	ENSP00000356399.4:n.3494-73_3494-62del
ENST00000466229.5:n.6592-73_6592-62del
NM_000186.3:c.3494-73_3494-62del , LRG_47t1:c.3494-73_3494-62del	NP_000177.2:n.3494-73_3494-62del
XR_001737134.2:n.3680-73_3680-62del
NM_000186.4:c.3494-73_3494-62del MANE Select	NP_000177.2:n.3494-73_3494-62del