Canonical Allele Identifier: CA528533998

Gene: CFH

Linked Data

• dbSNP Id: rs1251392927
• gnomAD v2: 1-196684922-T-TACTGGGATA
• MyVariant Identifiers: chr1:g.196684922_196684923insACTGGGATA (hg19) ; chr1:g.196715792_196715793insACTGGGATA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196715792_196715793insACTGGGATA , CM000663.2:g.196715792_196715793insACTGGGATA	GRCh38
NC_000001.10:g.196684922_196684923insACTGGGATA , CM000663.1:g.196684922_196684923insACTGGGATA	GRCh37
NC_000001.9:g.194951545_194951546insACTGGGATA	NCBI36
NG_007259.1:g.68782_68783insACTGGGATA , LRG_47:g.68782_68783insACTGGGATA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.1962+23_1962+24insACTGGGATA
ENST00000695969.1:c.1696+23_1696+24insACTGGGATA	ENSP00000512296.1:n.1696+23_1696+24insACTGGGATA
ENST00000695970.1:c.1696+23_1696+24insACTGGGATA	ENSP00000512297.1:n.1696+23_1696+24insACTGGGATA
ENST00000695971.1:c.1675+23_1675+24insACTGGGATA	ENSP00000512298.1:n.1675+23_1675+24insACTGGGATA
ENST00000695972.1:c.1696+23_1696+24insACTGGGATA	ENSP00000512299.1:n.1696+23_1696+24insACTGGGATA
ENST00000695973.1:c.1696+23_1696+24insACTGGGATA	ENSP00000512300.1:n.1696+23_1696+24insACTGGGATA
ENST00000695974.1:c.1696+23_1696+24insACTGGGATA	ENSP00000512301.1:n.1696+23_1696+24insACTGGGATA
ENST00000695975.1:c.1696+23_1696+24insACTGGGATA	ENSP00000512302.1:n.1696+23_1696+24insACTGGGATA
ENST00000695976.1:c.1507+23_1507+24insACTGGGATA	ENSP00000512303.1:n.1507+23_1507+24insACTGGGATA
ENST00000695981.1:c.1696+23_1696+24insACTGGGATA	ENSP00000512306.1:n.1696+23_1696+24insACTGGGATA
ENST00000695983.1:c.1696+23_1696+24insACTGGGATA	ENSP00000512308.1:n.1696+23_1696+24insACTGGGATA
ENST00000695984.1:c.245-12554_245-12553insACTGGGATA	ENSP00000512309.1:n.245-12554_245-12553insACTGGGATA
ENST00000695986.1:c.*1347+23_*1347+24insACTGGGATA	ENSP00000512311.1:n.*1347+23_*1347+24insACTGGGATA
ENST00000696024.1:n.1780+23_1780+24insACTGGGATA
ENST00000696025.1:n.1780+23_1780+24insACTGGGATA
ENST00000696026.1:c.1700+19_1700+20insACTGGGATA	ENSP00000512335.1:n.1700+19_1700+20insACTGGGATA
ENST00000696027.1:c.1696+23_1696+24insACTGGGATA	ENSP00000512336.1:n.1696+23_1696+24insACTGGGATA
ENST00000696028.1:c.1696+23_1696+24insACTGGGATA	ENSP00000512337.1:n.1696+23_1696+24insACTGGGATA
ENST00000696029.1:c.1696+23_1696+24insACTGGGATA	ENSP00000512338.1:n.1696+23_1696+24insACTGGGATA
ENST00000696031.1:c.*1214+23_*1214+24insACTGGGATA	ENSP00000512340.1:n.*1214+23_*1214+24insACTGGGATA
ENST00000696032.1:c.1696+23_1696+24insACTGGGATA	ENSP00000512341.1:n.1696+23_1696+24insACTGGGATA
ENST00000696033.1:c.1159+26178_1159+26179insACTGGGATA	ENSP00000512342.1:n.1159+26178_1159+26179insACTGGGATA
ENST00000367429.9:c.1696+23_1696+24insACTGGGATA MANE Select	ENSP00000356399.4:n.1696+23_1696+24insACTGGGATA
ENST00000367429.8:c.1696+23_1696+24insACTGGGATA	ENSP00000356399.4:n.1696+23_1696+24insACTGGGATA
ENST00000466229.5:n.3712+23_3712+24insACTGGGATA
NM_000186.3:c.1696+23_1696+24insACTGGGATA , LRG_47t1:c.1696+23_1696+24insACTGGGATA	NP_000177.2:n.1696+23_1696+24insACTGGGATA
XR_001737134.2:n.1781+23_1781+24insACTGGGATA
NM_000186.4:c.1696+23_1696+24insACTGGGATA MANE Select	NP_000177.2:n.1696+23_1696+24insACTGGGATA