Canonical Allele Identifier: CA35865363

Gene: CFH

Linked Data

• dbSNP Id: rs1017240080
• gnomAD v3: 1-196733232-T-C
• gnomAD v4: 1-196733232-T-C
• MyVariant Identifiers: chr1:g.196702362T>C (hg19) ; chr1:g.196733232T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196733232T>C , CM000663.2:g.196733232T>C	GRCh38
NC_000001.10:g.196702362T>C , CM000663.1:g.196702362T>C	GRCh37
NC_000001.9:g.194968985T>C	NCBI36
NG_007259.1:g.86222T>C , LRG_47:g.86222T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.2680-3592T>C
ENST00000695969.1:c.2414-3592T>C	ENSP00000512296.1:n.2414-3592T>C
ENST00000695970.1:c.2414-3592T>C	ENSP00000512297.1:n.2414-3592T>C
ENST00000695971.1:c.2393-3592T>C	ENSP00000512298.1:n.2393-3592T>C
ENST00000695972.1:c.2232+6296T>C	ENSP00000512299.1:n.2232+6296T>C
ENST00000695973.1:c.*778-3592T>C	ENSP00000512300.1:n.*778-3592T>C
ENST00000695974.1:c.2237-3592T>C	ENSP00000512301.1:n.2237-3592T>C
ENST00000695975.1:c.*541-3592T>C	ENSP00000512302.1:n.*541-3592T>C
ENST00000695976.1:c.2225-3592T>C	ENSP00000512303.1:n.2225-3592T>C
ENST00000695981.1:c.2414-3592T>C	ENSP00000512306.1:n.2414-3592T>C
ENST00000695983.1:c.2414-3592T>C	ENSP00000512308.1:n.2414-3592T>C
ENST00000695984.1:c.422-3592T>C	ENSP00000512309.1:n.422-3592T>C
ENST00000695986.1:c.*2065-3592T>C	ENSP00000512311.1:n.*2065-3592T>C
ENST00000696025.1:n.2498-3592T>C
ENST00000696026.1:c.*696-3592T>C	ENSP00000512335.1:n.*696-3592T>C
ENST00000696027.1:c.2408-3592T>C	ENSP00000512336.1:n.2408-3592T>C
ENST00000696028.1:c.2414-3592T>C	ENSP00000512337.1:n.2414-3592T>C
ENST00000696029.1:c.2414-3592T>C	ENSP00000512338.1:n.2414-3592T>C
ENST00000696031.1:c.*1932-3592T>C	ENSP00000512340.1:n.*1932-3592T>C
ENST00000696032.1:c.2414-3592T>C	ENSP00000512341.1:n.2414-3592T>C
ENST00000696033.1:c.1159+43618T>C	ENSP00000512342.1:n.1159+43618T>C
ENST00000367429.9:c.2414-3592T>C MANE Select	ENSP00000356399.4:n.2414-3592T>C
ENST00000367429.8:c.2414-3592T>C	ENSP00000356399.4:n.2414-3592T>C
ENST00000466229.5:n.4430-3592T>C
NM_000186.3:c.2414-3592T>C , LRG_47t1:c.2414-3592T>C	NP_000177.2:n.2414-3592T>C
XR_001737134.2:n.2600-3592T>C
NM_000186.4:c.2414-3592T>C MANE Select	NP_000177.2:n.2414-3592T>C