Canonical Allele Identifier: CA528533967

Gene: CFH

Linked Data

• dbSNP Id: rs1349602773
• gnomAD v2: 1-196683060-T-TAA
• MyVariant Identifiers: chr1:g.196683060_196683061insAA (hg19) ; chr1:g.196713930_196713931insAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196713930_196713931insAA , CM000663.2:g.196713930_196713931insAA	GRCh38
NC_000001.10:g.196683060_196683061insAA , CM000663.1:g.196683060_196683061insAA	GRCh37
NC_000001.9:g.194949683_194949684insAA	NCBI36
NG_007259.1:g.66920_66921insAA , LRG_47:g.66920_66921insAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.1785+13_1785+14insAA
ENST00000695969.1:c.1519+13_1519+14insAA	ENSP00000512296.1:n.1519+13_1519+14insAA
ENST00000695970.1:c.1519+13_1519+14insAA	ENSP00000512297.1:n.1519+13_1519+14insAA
ENST00000695971.1:c.1498+13_1498+14insAA	ENSP00000512298.1:n.1498+13_1498+14insAA
ENST00000695972.1:c.1519+13_1519+14insAA	ENSP00000512299.1:n.1519+13_1519+14insAA
ENST00000695973.1:c.1519+13_1519+14insAA	ENSP00000512300.1:n.1519+13_1519+14insAA
ENST00000695974.1:c.1519+13_1519+14insAA	ENSP00000512301.1:n.1519+13_1519+14insAA
ENST00000695975.1:c.1519+13_1519+14insAA	ENSP00000512302.1:n.1519+13_1519+14insAA
ENST00000695976.1:c.1330+13_1330+14insAA	ENSP00000512303.1:n.1330+13_1330+14insAA
ENST00000695981.1:c.1519+13_1519+14insAA	ENSP00000512306.1:n.1519+13_1519+14insAA
ENST00000695983.1:c.1519+13_1519+14insAA	ENSP00000512308.1:n.1519+13_1519+14insAA
ENST00000695984.1:c.245-14416_245-14415insAA	ENSP00000512309.1:n.245-14416_245-14415insAA
ENST00000695986.1:c.*1170+13_*1170+14insAA	ENSP00000512311.1:n.*1170+13_*1170+14insAA
ENST00000696024.1:n.1603+13_1603+14insAA
ENST00000696025.1:n.1603+13_1603+14insAA
ENST00000696026.1:c.1519+13_1519+14insAA	ENSP00000512335.1:n.1519+13_1519+14insAA
ENST00000696027.1:c.1519+13_1519+14insAA	ENSP00000512336.1:n.1519+13_1519+14insAA
ENST00000696028.1:c.1519+13_1519+14insAA	ENSP00000512337.1:n.1519+13_1519+14insAA
ENST00000696029.1:c.1519+13_1519+14insAA	ENSP00000512338.1:n.1519+13_1519+14insAA
ENST00000696031.1:c.*1037+13_*1037+14insAA	ENSP00000512340.1:n.*1037+13_*1037+14insAA
ENST00000696032.1:c.1519+13_1519+14insAA	ENSP00000512341.1:n.1519+13_1519+14insAA
ENST00000696033.1:c.1159+24316_1159+24317insAA	ENSP00000512342.1:n.1159+24316_1159+24317insAA
ENST00000367429.9:c.1519+13_1519+14insAA MANE Select	ENSP00000356399.4:n.1519+13_1519+14insAA
ENST00000367429.8:c.1519+13_1519+14insAA	ENSP00000356399.4:n.1519+13_1519+14insAA
ENST00000466229.5:n.3535+13_3535+14insAA
NM_000186.3:c.1519+13_1519+14insAA , LRG_47t1:c.1519+13_1519+14insAA	NP_000177.2:n.1519+13_1519+14insAA
XR_001737134.2:n.1604+13_1604+14insAA
NM_000186.4:c.1519+13_1519+14insAA MANE Select	NP_000177.2:n.1519+13_1519+14insAA