Canonical Allele Identifier: CA528259384

Gene: CFH

Linked Data

• dbSNP Id: rs1214607700
• gnomAD v2: 1-196713145-T-A
• gnomAD v3: 1-196744015-T-A
• gnomAD v4: 1-196744015-T-A
• MyVariant Identifiers: chr1:g.196713145T>A (hg19) ; chr1:g.196744015T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196744015T>A , CM000663.2:g.196744015T>A	GRCh38
NC_000001.10:g.196713145T>A , CM000663.1:g.196713145T>A	GRCh37
NC_000001.9:g.194979768T>A	NCBI36
NG_007259.1:g.97005T>A , LRG_47:g.97005T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4338+387T>A
ENST00000695970.1:c.3136+387T>A	ENSP00000512297.1:n.3136+387T>A
ENST00000695971.1:c.3289+387T>A	ENSP00000512298.1:n.3289+387T>A
ENST00000695972.1:c.*387+387T>A	ENSP00000512299.1:n.*387+387T>A
ENST00000695973.1:c.*1674+387T>A	ENSP00000512300.1:n.*1674+387T>A
ENST00000695974.1:c.3133+387T>A	ENSP00000512301.1:n.3133+387T>A
ENST00000695975.1:c.*1437+387T>A	ENSP00000512302.1:n.*1437+387T>A
ENST00000695976.1:c.3121+387T>A	ENSP00000512303.1:n.3121+387T>A
ENST00000695981.1:c.3310+387T>A	ENSP00000512306.1:n.3310+387T>A
ENST00000695984.1:c.1318+387T>A	ENSP00000512309.1:n.1318+387T>A
ENST00000695986.1:c.*2961+387T>A	ENSP00000512311.1:n.*2961+387T>A
ENST00000696026.1:c.*1592+387T>A	ENSP00000512335.1:n.*1592+387T>A
ENST00000696027.1:c.3304+387T>A	ENSP00000512336.1:n.3304+387T>A
ENST00000696028.1:c.3238+387T>A	ENSP00000512337.1:n.3238+387T>A
ENST00000696029.1:c.3304+387T>A	ENSP00000512338.1:n.3304+387T>A
ENST00000696031.1:c.*2828+387T>A	ENSP00000512340.1:n.*2828+387T>A
ENST00000696032.1:c.3310+387T>A	ENSP00000512341.1:n.3310+387T>A
ENST00000696033.1:c.1160-35782T>A	ENSP00000512342.1:n.1160-35782T>A
ENST00000367429.9:c.3310+387T>A MANE Select	ENSP00000356399.4:n.3310+387T>A
ENST00000367429.8:c.3310+387T>A	ENSP00000356399.4:n.3310+387T>A
ENST00000466229.5:n.6408+387T>A
NM_000186.3:c.3310+387T>A , LRG_47t1:c.3310+387T>A	NP_000177.2:n.3310+387T>A
XR_001737134.2:n.3496+387T>A
NM_000186.4:c.3310+387T>A MANE Select	NP_000177.2:n.3310+387T>A