Canonical Allele Identifier: CA528259398

Gene: CFH

Linked Data

• dbSNP Id: rs1421265741
• gnomAD v2: 1-196713175-CTG-C
• gnomAD v3: 1-196744045-CTG-C
• gnomAD v4: 1-196744045-CTG-C
• MyVariant Identifiers: chr1:g.196713176_196713177del (hg19) ; chr1:g.196744046_196744047del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196744047_196744048del , CM000663.2:g.196744047_196744048del	GRCh38
NC_000001.10:g.196713177_196713178del , CM000663.1:g.196713177_196713178del	GRCh37
NC_000001.9:g.194979800_194979801del	NCBI36
NG_007259.1:g.97037_97038del , LRG_47:g.97037_97038del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4338+419_4338+420del
ENST00000695970.1:c.3136+419_3136+420del	ENSP00000512297.1:n.3136+419_3136+420del
ENST00000695971.1:c.3289+419_3289+420del	ENSP00000512298.1:n.3289+419_3289+420del
ENST00000695972.1:c.*387+419_*387+420del	ENSP00000512299.1:n.*387+419_*387+420del
ENST00000695973.1:c.*1674+419_*1674+420del	ENSP00000512300.1:n.*1674+419_*1674+420del
ENST00000695974.1:c.3133+419_3133+420del	ENSP00000512301.1:n.3133+419_3133+420del
ENST00000695975.1:c.*1437+419_*1437+420del	ENSP00000512302.1:n.*1437+419_*1437+420del
ENST00000695976.1:c.3121+419_3121+420del	ENSP00000512303.1:n.3121+419_3121+420del
ENST00000695981.1:c.3310+419_3310+420del	ENSP00000512306.1:n.3310+419_3310+420del
ENST00000695984.1:c.1318+419_1318+420del	ENSP00000512309.1:n.1318+419_1318+420del
ENST00000695986.1:c.*2961+419_*2961+420del	ENSP00000512311.1:n.*2961+419_*2961+420del
ENST00000696026.1:c.*1592+419_*1592+420del	ENSP00000512335.1:n.*1592+419_*1592+420del
ENST00000696027.1:c.3304+419_3304+420del	ENSP00000512336.1:n.3304+419_3304+420del
ENST00000696028.1:c.3238+419_3238+420del	ENSP00000512337.1:n.3238+419_3238+420del
ENST00000696029.1:c.3304+419_3304+420del	ENSP00000512338.1:n.3304+419_3304+420del
ENST00000696031.1:c.*2828+419_*2828+420del	ENSP00000512340.1:n.*2828+419_*2828+420del
ENST00000696032.1:c.3310+419_3310+420del	ENSP00000512341.1:n.3310+419_3310+420del
ENST00000696033.1:c.1160-35750_1160-35749del	ENSP00000512342.1:n.1160-35750_1160-35749del
ENST00000367429.9:c.3310+419_3310+420del MANE Select	ENSP00000356399.4:n.3310+419_3310+420del
ENST00000367429.8:c.3310+419_3310+420del	ENSP00000356399.4:n.3310+419_3310+420del
ENST00000466229.5:n.6408+419_6408+420del
NM_000186.3:c.3310+419_3310+420del , LRG_47t1:c.3310+419_3310+420del	NP_000177.2:n.3310+419_3310+420del
XR_001737134.2:n.3496+419_3496+420del
NM_000186.4:c.3310+419_3310+420del MANE Select	NP_000177.2:n.3310+419_3310+420del