Canonical Allele Identifier: CA1305407

Gene: CFH

Linked Data

• dbSNP Id: rs768316446
• ExAC: 1:196683046 TAGTA / T
• gnomAD v2: 1-196683046-TAGTA-T
• gnomAD v3: 1-196713916-TAGTA-T
• gnomAD v4: 1-196713916-TAGTA-T
• MyVariant Identifiers: chr1:g.196683047_196683050del (hg19) ; chr1:g.196713917_196713920del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196713922_196713925del , CM000663.2:g.196713922_196713925del	GRCh38
NC_000001.10:g.196683052_196683055del , CM000663.1:g.196683052_196683055del	GRCh37
NC_000001.9:g.194949675_194949678del	NCBI36
NG_007259.1:g.66912_66915del , LRG_47:g.66912_66915del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.1785+5_1785+8del
ENST00000695969.1:c.1519+5_1519+8del
ENST00000695970.1:c.1519+5_1519+8del
ENST00000695971.1:c.1498+5_1498+8del
ENST00000695972.1:c.1519+5_1519+8del
ENST00000695973.1:c.1519+5_1519+8del
ENST00000695974.1:c.1519+5_1519+8del
ENST00000695975.1:c.1519+5_1519+8del
ENST00000695976.1:c.1330+5_1330+8del
ENST00000695981.1:c.1519+5_1519+8del
ENST00000695983.1:c.1519+5_1519+8del
ENST00000695984.1:c.245-14424_245-14421del	ENSP00000512309.1:n.245-14424_245-14421del
ENST00000695986.1:c.*1170+5_*1170+8del
ENST00000696024.1:n.1603+5_1603+8del
ENST00000696025.1:n.1603+5_1603+8del
ENST00000696026.1:c.1519+5_1519+8del
ENST00000696027.1:c.1519+5_1519+8del
ENST00000696028.1:c.1519+5_1519+8del
ENST00000696029.1:c.1519+5_1519+8del
ENST00000696031.1:c.*1037+5_*1037+8del
ENST00000696032.1:c.1519+5_1519+8del
ENST00000696033.1:c.1159+24308_1159+24311del	ENSP00000512342.1:n.1159+24308_1159+24311del
ENST00000367429.9:c.1519+5_1519+8del
ENST00000367429.8:c.1519+5_1519+8del
ENST00000466229.5:n.3535+5_3535+8del
NM_000186.3:c.1519+5_1519+8del , LRG_47t1:c.1519+5_1519+8del
XR_001737134.2:n.1604+5_1604+8del
NM_000186.4:c.1519+5_1519+8del