Canonical Allele Identifier: CA343987010

Gene: CFH

Linked Data

• dbSNP Id: rs1653039952
• gnomAD v4: 1-196747125-T-C
• MyVariant Identifiers: chr1:g.196716255T>C (hg19) ; chr1:g.196747125T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747125T>C , CM000663.2:g.196747125T>C	GRCh38
NC_000001.10:g.196716255T>C , CM000663.1:g.196716255T>C	GRCh37
NC_000001.9:g.194982878T>C	NCBI36
NG_007259.1:g.100115T>C , LRG_47:g.100115T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000470918.2:n.4536T>C
ENST00000695970.1:c.3334T>C	ENSP00000512297.1:p.Ser1112Pro
ENST00000695971.1:c.3487T>C	ENSP00000512298.1:p.Ser1163Pro
ENST00000695972.1:c.*585T>C	ENSP00000512299.1:n.*585T>C
ENST00000695973.1:c.*1872T>C	ENSP00000512300.1:n.*1872T>C
ENST00000695974.1:c.3331T>C	ENSP00000512301.1:p.Ser1111Pro
ENST00000695975.1:c.*1635T>C	ENSP00000512302.1:n.*1635T>C
ENST00000695976.1:c.3319T>C	ENSP00000512303.1:p.Ser1107Pro
ENST00000695981.1:c.3508T>C	ENSP00000512306.1:p.Ser1170Pro
ENST00000695984.1:c.1516T>C	ENSP00000512309.1:p.Ser506Pro
ENST00000695986.1:c.*3159T>C	ENSP00000512311.1:n.*3159T>C
ENST00000695990.1:n.542T>C
ENST00000696026.1:c.*1790T>C	ENSP00000512335.1:n.*1790T>C
ENST00000696027.1:c.3502T>C	ENSP00000512336.1:p.Ser1168Pro
ENST00000696028.1:c.3436T>C	ENSP00000512337.1:p.Ser1146Pro
ENST00000696029.1:c.3502T>C	ENSP00000512338.1:p.Ser1168Pro
ENST00000696031.1:c.*3026T>C	ENSP00000512340.1:n.*3026T>C
ENST00000696032.1:c.3508T>C	ENSP00000512341.1:p.Ser1170Pro
ENST00000696033.1:c.1160-32672T>C	ENSP00000512342.1:n.1160-32672T>C
ENST00000367429.9:c.3508T>C MANE Select	ENSP00000356399.4:p.Ser1170Pro
ENST00000367429.8:c.3508T>C	ENSP00000356399.4:p.Ser1170Pro
ENST00000466229.5:n.6606T>C
NM_000186.3:c.3508T>C , LRG_47t1:c.3508T>C	NP_000177.2:p.Ser1170Pro
XR_001737134.2:n.3694T>C
NM_000186.4:c.3508T>C MANE Select	NP_000177.2:p.Ser1170Pro