Canonical Allele Identifier: CA1305911

Gene: CFH

Linked Data

• dbSNP Id: rs753891415
• ExAC: 1:196712783 A / AT
• gnomAD v2: 1-196712783-A-AT
• gnomAD v3: 1-196743653-A-AT
• gnomAD v4: 1-196743653-A-AT
• MyVariant Identifiers: chr1:g.196712783_196712784insT (hg19) ; chr1:g.196743653_196743654insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196743657dup , CM000663.2:g.196743657dup	GRCh38
NC_000001.10:g.196712787dup , CM000663.1:g.196712787dup	GRCh37
NC_000001.9:g.194979410dup	NCBI36
NG_007259.1:g.96647dup , LRG_47:g.96647dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4338+29dup
ENST00000695970.1:c.3136+29dup	ENSP00000512297.1:n.3136+29dup
ENST00000695971.1:c.3289+29dup	ENSP00000512298.1:n.3289+29dup
ENST00000695972.1:c.*387+29dup	ENSP00000512299.1:n.*387+29dup
ENST00000695973.1:c.*1674+29dup	ENSP00000512300.1:n.*1674+29dup
ENST00000695974.1:c.3133+29dup	ENSP00000512301.1:n.3133+29dup
ENST00000695975.1:c.*1437+29dup	ENSP00000512302.1:n.*1437+29dup
ENST00000695976.1:c.3121+29dup	ENSP00000512303.1:n.3121+29dup
ENST00000695981.1:c.3310+29dup	ENSP00000512306.1:n.3310+29dup
ENST00000695984.1:c.1318+29dup	ENSP00000512309.1:n.1318+29dup
ENST00000695986.1:c.*2961+29dup	ENSP00000512311.1:n.*2961+29dup
ENST00000696026.1:c.*1592+29dup	ENSP00000512335.1:n.*1592+29dup
ENST00000696027.1:c.3304+29dup	ENSP00000512336.1:n.3304+29dup
ENST00000696028.1:c.3238+29dup	ENSP00000512337.1:n.3238+29dup
ENST00000696029.1:c.3304+29dup	ENSP00000512338.1:n.3304+29dup
ENST00000696031.1:c.*2828+29dup	ENSP00000512340.1:n.*2828+29dup
ENST00000696032.1:c.3310+29dup	ENSP00000512341.1:n.3310+29dup
ENST00000696033.1:c.1160-36140dup	ENSP00000512342.1:n.1160-36140dup
ENST00000367429.9:c.3310+29dup MANE Select	ENSP00000356399.4:n.3310+29dup
ENST00000367429.8:c.3310+29dup	ENSP00000356399.4:n.3310+29dup
ENST00000466229.5:n.6408+29dup
NM_000186.3:c.3310+29dup , LRG_47t1:c.3310+29dup	NP_000177.2:n.3310+29dup
XR_001737134.2:n.3496+29dup
NM_000186.4:c.3310+29dup MANE Select	NP_000177.2:n.3310+29dup