Canonical Allele Identifier: CA343987221

Gene: CFH

Linked Data

• gnomAD v4: 1-196747145-T-A
• MyVariant Identifiers: chr1:g.196716275T>A (hg19) ; chr1:g.196747145T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747145T>A , CM000663.2:g.196747145T>A	GRCh38
NC_000001.10:g.196716275T>A , CM000663.1:g.196716275T>A	GRCh37
NC_000001.9:g.194982898T>A	NCBI36
NG_007259.1:g.100135T>A , LRG_47:g.100135T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4556T>A
ENST00000695970.1:c.3354T>A	ENSP00000512297.1:p.Asn1118Lys
ENST00000695971.1:c.3507T>A	ENSP00000512298.1:p.Asn1169Lys
ENST00000695972.1:c.*605T>A	ENSP00000512299.1:n.*605T>A
ENST00000695973.1:c.*1892T>A	ENSP00000512300.1:n.*1892T>A
ENST00000695974.1:c.3351T>A	ENSP00000512301.1:p.Asn1117Lys
ENST00000695975.1:c.*1655T>A	ENSP00000512302.1:n.*1655T>A
ENST00000695976.1:c.3339T>A	ENSP00000512303.1:p.Asn1113Lys
ENST00000695981.1:c.3528T>A	ENSP00000512306.1:p.Asn1176Lys
ENST00000695984.1:c.1536T>A	ENSP00000512309.1:p.Asn512Lys
ENST00000695986.1:c.*3179T>A	ENSP00000512311.1:n.*3179T>A
ENST00000695990.1:n.562T>A
ENST00000696026.1:c.*1810T>A	ENSP00000512335.1:n.*1810T>A
ENST00000696027.1:c.3522T>A	ENSP00000512336.1:p.Asn1174Lys
ENST00000696028.1:c.3456T>A	ENSP00000512337.1:p.Asn1152Lys
ENST00000696029.1:c.3522T>A	ENSP00000512338.1:p.Asn1174Lys
ENST00000696031.1:c.*3046T>A	ENSP00000512340.1:n.*3046T>A
ENST00000696032.1:c.3528T>A	ENSP00000512341.1:p.Asn1176Lys
ENST00000696033.1:c.1160-32652T>A	ENSP00000512342.1:n.1160-32652T>A
ENST00000367429.9:c.3528T>A MANE Select	ENSP00000356399.4:p.Asn1176Lys
ENST00000367429.8:c.3528T>A	ENSP00000356399.4:p.Asn1176Lys
ENST00000466229.5:n.6626T>A
NM_000186.3:c.3528T>A , LRG_47t1:c.3528T>A	NP_000177.2:p.Asn1176Lys
XR_001737134.2:n.3714T>A
NM_000186.4:c.3528T>A MANE Select	NP_000177.2:p.Asn1176Lys