Canonical Allele Identifier: CA343988053

Gene: CFH

Linked Data

• MyVariant Identifiers: chr1:g.196716360T>A (hg19) ; chr1:g.196747230T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747230T>A , CM000663.2:g.196747230T>A	GRCh38
NC_000001.10:g.196716360T>A , CM000663.1:g.196716360T>A	GRCh37
NC_000001.9:g.194982983T>A	NCBI36
NG_007259.1:g.100220T>A , LRG_47:g.100220T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4641T>A
ENST00000695970.1:c.3439T>A	ENSP00000512297.1:p.Tyr1147Asn
ENST00000695971.1:c.3592T>A	ENSP00000512298.1:p.Tyr1198Asn
ENST00000695972.1:c.*690T>A	ENSP00000512299.1:n.*690T>A
ENST00000695973.1:c.*1977T>A	ENSP00000512300.1:n.*1977T>A
ENST00000695974.1:c.3436T>A	ENSP00000512301.1:p.Tyr1146Asn
ENST00000695975.1:c.*1740T>A	ENSP00000512302.1:n.*1740T>A
ENST00000695976.1:c.3424T>A	ENSP00000512303.1:p.Tyr1142Asn
ENST00000695981.1:c.3580+33T>A	ENSP00000512306.1:n.3580+33T>A
ENST00000695984.1:c.1621T>A	ENSP00000512309.1:p.Tyr541Asn
ENST00000695986.1:c.*3264T>A	ENSP00000512311.1:n.*3264T>A
ENST00000695990.1:n.647T>A
ENST00000696026.1:c.*1895T>A	ENSP00000512335.1:n.*1895T>A
ENST00000696027.1:c.3607T>A	ENSP00000512336.1:p.Tyr1203Asn
ENST00000696028.1:c.3541T>A	ENSP00000512337.1:p.Tyr1181Asn
ENST00000696029.1:c.3607T>A	ENSP00000512338.1:p.Tyr1203Asn
ENST00000696031.1:c.*3131T>A	ENSP00000512340.1:n.*3131T>A
ENST00000696032.1:c.3580+33T>A	ENSP00000512341.1:n.3580+33T>A
ENST00000696033.1:c.1160-32567T>A	ENSP00000512342.1:n.1160-32567T>A
ENST00000367429.9:c.3613T>A MANE Select	ENSP00000356399.4:p.Tyr1205Asn
ENST00000367429.8:c.3613T>A	ENSP00000356399.4:p.Tyr1205Asn
ENST00000466229.5:n.6711T>A
NM_000186.3:c.3613T>A , LRG_47t1:c.3613T>A	NP_000177.2:p.Tyr1205Asn
XR_001737134.2:n.3799T>A
NM_000186.4:c.3613T>A MANE Select	NP_000177.2:p.Tyr1205Asn