Canonical Allele Identifier: CA528534000

Gene: CFH

Linked Data

• dbSNP Id: rs1190164144
• gnomAD v2: 1-196684924-C-CTGGGAT
• MyVariant Identifiers: chr1:g.196684924_196684925insTGGGAT (hg19) ; chr1:g.196715794_196715795insTGGGAT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196715794_196715795insTGGGAT , CM000663.2:g.196715794_196715795insTGGGAT	GRCh38
NC_000001.10:g.196684924_196684925insTGGGAT , CM000663.1:g.196684924_196684925insTGGGAT	GRCh37
NC_000001.9:g.194951547_194951548insTGGGAT	NCBI36
NG_007259.1:g.68784_68785insTGGGAT , LRG_47:g.68784_68785insTGGGAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.1962+25_1962+26insTGGGAT
ENST00000695969.1:c.1696+25_1696+26insTGGGAT	ENSP00000512296.1:n.1696+25_1696+26insTGGGAT
ENST00000695970.1:c.1696+25_1696+26insTGGGAT	ENSP00000512297.1:n.1696+25_1696+26insTGGGAT
ENST00000695971.1:c.1675+25_1675+26insTGGGAT	ENSP00000512298.1:n.1675+25_1675+26insTGGGAT
ENST00000695972.1:c.1696+25_1696+26insTGGGAT	ENSP00000512299.1:n.1696+25_1696+26insTGGGAT
ENST00000695973.1:c.1696+25_1696+26insTGGGAT	ENSP00000512300.1:n.1696+25_1696+26insTGGGAT
ENST00000695974.1:c.1696+25_1696+26insTGGGAT	ENSP00000512301.1:n.1696+25_1696+26insTGGGAT
ENST00000695975.1:c.1696+25_1696+26insTGGGAT	ENSP00000512302.1:n.1696+25_1696+26insTGGGAT
ENST00000695976.1:c.1507+25_1507+26insTGGGAT	ENSP00000512303.1:n.1507+25_1507+26insTGGGAT
ENST00000695981.1:c.1696+25_1696+26insTGGGAT	ENSP00000512306.1:n.1696+25_1696+26insTGGGAT
ENST00000695983.1:c.1696+25_1696+26insTGGGAT	ENSP00000512308.1:n.1696+25_1696+26insTGGGAT
ENST00000695984.1:c.245-12552_245-12551insTGGGAT	ENSP00000512309.1:n.245-12552_245-12551insTGGGAT
ENST00000695986.1:c.*1347+25_*1347+26insTGGGAT	ENSP00000512311.1:n.*1347+25_*1347+26insTGGGAT
ENST00000696024.1:n.1780+25_1780+26insTGGGAT
ENST00000696025.1:n.1780+25_1780+26insTGGGAT
ENST00000696026.1:c.1700+21_1700+22insTGGGAT	ENSP00000512335.1:n.1700+21_1700+22insTGGGAT
ENST00000696027.1:c.1696+25_1696+26insTGGGAT	ENSP00000512336.1:n.1696+25_1696+26insTGGGAT
ENST00000696028.1:c.1696+25_1696+26insTGGGAT	ENSP00000512337.1:n.1696+25_1696+26insTGGGAT
ENST00000696029.1:c.1696+25_1696+26insTGGGAT	ENSP00000512338.1:n.1696+25_1696+26insTGGGAT
ENST00000696031.1:c.*1214+25_*1214+26insTGGGAT	ENSP00000512340.1:n.*1214+25_*1214+26insTGGGAT
ENST00000696032.1:c.1696+25_1696+26insTGGGAT	ENSP00000512341.1:n.1696+25_1696+26insTGGGAT
ENST00000696033.1:c.1159+26180_1159+26181insTGGGAT	ENSP00000512342.1:n.1159+26180_1159+26181insTGGGAT
ENST00000367429.9:c.1696+25_1696+26insTGGGAT MANE Select	ENSP00000356399.4:n.1696+25_1696+26insTGGGAT
ENST00000367429.8:c.1696+25_1696+26insTGGGAT	ENSP00000356399.4:n.1696+25_1696+26insTGGGAT
ENST00000466229.5:n.3712+25_3712+26insTGGGAT
NM_000186.3:c.1696+25_1696+26insTGGGAT , LRG_47t1:c.1696+25_1696+26insTGGGAT	NP_000177.2:n.1696+25_1696+26insTGGGAT
XR_001737134.2:n.1781+25_1781+26insTGGGAT
NM_000186.4:c.1696+25_1696+26insTGGGAT MANE Select	NP_000177.2:n.1696+25_1696+26insTGGGAT