Canonical Allele Identifier: CA35816396

Gene: CFH

Linked Data

• dbSNP Id: rs1020210769
• gnomAD v3: 1-196747447-T-C
• gnomAD v4: 1-196747447-T-C
• MyVariant Identifiers: chr1:g.196716577T>C (hg19) ; chr1:g.196747447T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747447T>C , CM000663.2:g.196747447T>C	GRCh38
NC_000001.10:g.196716577T>C , CM000663.1:g.196716577T>C	GRCh37
NC_000001.9:g.194983200T>C	NCBI36
NG_007259.1:g.100437T>C , LRG_47:g.100437T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4858T>C
ENST00000695970.1:c.*134T>C	ENSP00000512297.1:n.*134T>C
ENST00000695971.1:c.*134T>C	ENSP00000512298.1:n.*134T>C
ENST00000695972.1:c.*907T>C	ENSP00000512299.1:n.*907T>C
ENST00000695973.1:c.*2194T>C	ENSP00000512300.1:n.*2194T>C
ENST00000695974.1:c.*134T>C	ENSP00000512301.1:n.*134T>C
ENST00000695975.1:c.*1957T>C	ENSP00000512302.1:n.*1957T>C
ENST00000695976.1:c.*134T>C	ENSP00000512303.1:n.*134T>C
ENST00000695981.1:c.3580+250T>C	ENSP00000512306.1:n.3580+250T>C
ENST00000695984.1:c.*134T>C	ENSP00000512309.1:n.*134T>C
ENST00000695986.1:c.*3481T>C	ENSP00000512311.1:n.*3481T>C
ENST00000695990.1:n.864T>C
ENST00000696026.1:c.*2112T>C	ENSP00000512335.1:n.*2112T>C
ENST00000696027.1:c.*134T>C	ENSP00000512336.1:n.*134T>C
ENST00000696028.1:c.*134T>C	ENSP00000512337.1:n.*134T>C
ENST00000696029.1:c.*134T>C	ENSP00000512338.1:n.*134T>C
ENST00000696031.1:c.*3348T>C	ENSP00000512340.1:n.*3348T>C
ENST00000696032.1:c.3580+250T>C	ENSP00000512341.1:n.3580+250T>C
ENST00000696033.1:c.1160-32350T>C	ENSP00000512342.1:n.1160-32350T>C
ENST00000367429.9:c.*134T>C MANE Select	ENSP00000356399.4:n.*134T>C
ENST00000367429.8:c.*134T>C	ENSP00000356399.4:n.*134T>C
ENST00000466229.5:n.6928T>C
NM_000186.3:c.*134T>C , LRG_47t1:c.*134T>C	NP_000177.2:n.*134T>C
XR_001737134.2:n.4016T>C
NM_000186.4:c.*134T>C MANE Select	NP_000177.2:n.*134T>C