Canonical Allele Identifier: CA343983993

Gene: CFH

Linked Data

• MyVariant Identifiers: chr1:g.196712727T>A (hg19) ; chr1:g.196743597T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196743597T>A , CM000663.2:g.196743597T>A	GRCh38
NC_000001.10:g.196712727T>A , CM000663.1:g.196712727T>A	GRCh37
NC_000001.9:g.194979350T>A	NCBI36
NG_007259.1:g.96587T>A , LRG_47:g.96587T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4307T>A
ENST00000695970.1:c.3105T>A	ENSP00000512297.1:p.Asn1035Lys
ENST00000695971.1:c.3258T>A	ENSP00000512298.1:p.Asn1086Lys
ENST00000695972.1:c.*356T>A	ENSP00000512299.1:n.*356T>A
ENST00000695973.1:c.*1643T>A	ENSP00000512300.1:n.*1643T>A
ENST00000695974.1:c.3102T>A	ENSP00000512301.1:p.Asn1034Lys
ENST00000695975.1:c.*1406T>A	ENSP00000512302.1:n.*1406T>A
ENST00000695976.1:c.3090T>A	ENSP00000512303.1:p.Asn1030Lys
ENST00000695981.1:c.3279T>A	ENSP00000512306.1:p.Asn1093Lys
ENST00000695984.1:c.1287T>A	ENSP00000512309.1:p.Asn429Lys
ENST00000695986.1:c.*2930T>A	ENSP00000512311.1:n.*2930T>A
ENST00000696026.1:c.*1561T>A	ENSP00000512335.1:n.*1561T>A
ENST00000696027.1:c.3273T>A	ENSP00000512336.1:p.Asn1091Lys
ENST00000696028.1:c.3207T>A	ENSP00000512337.1:p.Asn1069Lys
ENST00000696029.1:c.3273T>A	ENSP00000512338.1:p.Asn1091Lys
ENST00000696031.1:c.*2797T>A	ENSP00000512340.1:n.*2797T>A
ENST00000696032.1:c.3279T>A	ENSP00000512341.1:p.Asn1093Lys
ENST00000696033.1:c.1160-36200T>A	ENSP00000512342.1:n.1160-36200T>A
ENST00000367429.9:c.3279T>A MANE Select	ENSP00000356399.4:p.Asn1093Lys
ENST00000367429.8:c.3279T>A	ENSP00000356399.4:p.Asn1093Lys
ENST00000466229.5:n.6377T>A
NM_000186.3:c.3279T>A , LRG_47t1:c.3279T>A	NP_000177.2:p.Asn1093Lys
XR_001737134.2:n.3465T>A
NM_000186.4:c.3279T>A MANE Select	NP_000177.2:p.Asn1093Lys