Canonical Allele Identifier: CA1305720

Gene: CFH

Linked Data

• dbSNP Id: rs121913057
• ExAC: 1:196706705 T / C
• gnomAD v2: 1-196706705-T-C
• gnomAD v3: 1-196737575-T-C
• gnomAD v4: 1-196737575-T-C
• MyVariant Identifiers: chr1:g.196706705T>C (hg19) ; chr1:g.196737575T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196737575T>C , CM000663.2:g.196737575T>C	GRCh38
NC_000001.10:g.196706705T>C , CM000663.1:g.196706705T>C	GRCh37
NC_000001.9:g.194973328T>C	NCBI36
NG_007259.1:g.90565T>C , LRG_47:g.90565T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000470918.2:n.2963T>C
ENST00000695969.1:c.2697T>C	ENSP00000512296.1:p.Tyr899=
ENST00000695970.1:c.2697T>C	ENSP00000512297.1:p.Tyr899=
ENST00000695971.1:c.2676T>C	ENSP00000512298.1:p.Tyr892=
ENST00000695972.1:c.2233-3089T>C	ENSP00000512299.1:n.2233-3089T>C
ENST00000695973.1:c.*1061T>C	ENSP00000512300.1:n.*1061T>C
ENST00000695974.1:c.2520T>C	ENSP00000512301.1:p.Tyr840=
ENST00000695975.1:c.*824T>C	ENSP00000512302.1:n.*824T>C
ENST00000695976.1:c.2508T>C	ENSP00000512303.1:p.Tyr836=
ENST00000695981.1:c.2697T>C	ENSP00000512306.1:p.Tyr899=
ENST00000695983.1:c.2697T>C	ENSP00000512308.1:p.Tyr899=
ENST00000695984.1:c.705T>C	ENSP00000512309.1:p.Tyr235=
ENST00000695986.1:c.*2348T>C	ENSP00000512311.1:n.*2348T>C
ENST00000696025.1:n.2781T>C
ENST00000696026.1:c.*979T>C	ENSP00000512335.1:n.*979T>C
ENST00000696027.1:c.2691T>C	ENSP00000512336.1:p.Tyr897=
ENST00000696028.1:c.2697T>C	ENSP00000512337.1:p.Tyr899=
ENST00000696029.1:c.2697T>C	ENSP00000512338.1:p.Tyr899=
ENST00000696031.1:c.*2215T>C	ENSP00000512340.1:n.*2215T>C
ENST00000696032.1:c.2697T>C	ENSP00000512341.1:p.Tyr899=
ENST00000696033.1:c.1160-42222T>C	ENSP00000512342.1:n.1160-42222T>C
ENST00000367429.9:c.2697T>C MANE Select	ENSP00000356399.4:p.Tyr899=
ENST00000367429.8:c.2697T>C	ENSP00000356399.4:p.Tyr899=
ENST00000466229.5:n.4713T>C
ENST00000470918.1:n.200T>C
NM_000186.3:c.2697T>C , LRG_47t1:c.2697T>C	NP_000177.2:p.Tyr899=
XR_001737134.2:n.2883T>C
NM_000186.4:c.2697T>C MANE Select	NP_000177.2:p.Tyr899=