Canonical Allele Identifier: CA1305989

Gene: CFH

Linked Data

• dbSNP Id: rs762564071
• ExAC: 1:196716360 T / C
• gnomAD v2: 1-196716360-T-C
• gnomAD v4: 1-196747230-T-C
• MyVariant Identifiers: chr1:g.196716360T>C (hg19) ; chr1:g.196747230T>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000470918.2:n.4641T>C
ENST00000695970.1:c.3439T>C	ENSP00000512297.1:p.Tyr1147His
ENST00000695971.1:c.3592T>C	ENSP00000512298.1:p.Tyr1198His
ENST00000695972.1:c.*690T>C	ENSP00000512299.1:n.*690T>C
ENST00000695973.1:c.*1977T>C	ENSP00000512300.1:n.*1977T>C
ENST00000695974.1:c.3436T>C	ENSP00000512301.1:p.Tyr1146His
ENST00000695975.1:c.*1740T>C	ENSP00000512302.1:n.*1740T>C
ENST00000695976.1:c.3424T>C	ENSP00000512303.1:p.Tyr1142His
ENST00000695981.1:c.3580+33T>C	ENSP00000512306.1:n.3580+33T>C
ENST00000695984.1:c.1621T>C	ENSP00000512309.1:p.Tyr541His
ENST00000695986.1:c.*3264T>C	ENSP00000512311.1:n.*3264T>C
ENST00000695990.1:n.647T>C
ENST00000696026.1:c.*1895T>C	ENSP00000512335.1:n.*1895T>C
ENST00000696027.1:c.3607T>C	ENSP00000512336.1:p.Tyr1203His
ENST00000696028.1:c.3541T>C	ENSP00000512337.1:p.Tyr1181His
ENST00000696029.1:c.3607T>C	ENSP00000512338.1:p.Tyr1203His
ENST00000696031.1:c.*3131T>C	ENSP00000512340.1:n.*3131T>C
ENST00000696032.1:c.3580+33T>C	ENSP00000512341.1:n.3580+33T>C
ENST00000696033.1:c.1160-32567T>C	ENSP00000512342.1:n.1160-32567T>C
ENST00000367429.9:c.3613T>C MANE Select	ENSP00000356399.4:p.Tyr1205His
ENST00000367429.8:c.3613T>C	ENSP00000356399.4:p.Tyr1205His
ENST00000466229.5:n.6711T>C
NM_000186.3:c.3613T>C , LRG_47t1:c.3613T>C	NP_000177.2:p.Tyr1205His
XR_001737134.2:n.3799T>C
NM_000186.4:c.3613T>C MANE Select	NP_000177.2:p.Tyr1205His