Canonical Allele Identifier: CA10608660

Gene: CFH

Linked Data

• ClinVar Variation Id: 294474
• ClinVar RCV Id: RCV000264506 ; RCV000321924 ; RCV000361485 ; RCV000383036
• dbSNP Id: rs762143457
• gnomAD v2: 1-196621073-T-C
• gnomAD v3: 1-196651943-T-C
• gnomAD v4: 1-196651943-T-C
• MyVariant Identifiers: chr1:g.196621073T>C (hg19) ; chr1:g.196651943T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196651943T>C , CM000663.2:g.196651943T>C	GRCh38
NC_000001.10:g.196621073T>C , CM000663.1:g.196621073T>C	GRCh37
NC_000001.9:g.194887696T>C	NCBI36
NG_007259.1:g.4933T>C , LRG_47:g.4933T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359637.3:c.-175T>C	ENSP00000352658.2:n.-175T>C
ENST00000470918.2:n.92T>C
ENST00000695968.1:c.-175T>C	ENSP00000512295.1:n.-175T>C
ENST00000695969.1:c.-175T>C	ENSP00000512296.1:n.-175T>C
ENST00000695970.1:c.-175T>C	ENSP00000512297.1:n.-175T>C
ENST00000695971.1:c.-175T>C	ENSP00000512298.1:n.-175T>C
ENST00000695972.1:c.-175T>C	ENSP00000512299.1:n.-175T>C
ENST00000695973.1:c.-175T>C	ENSP00000512300.1:n.-175T>C
ENST00000695974.1:c.-175T>C	ENSP00000512301.1:n.-175T>C
ENST00000695975.1:c.-175T>C	ENSP00000512302.1:n.-175T>C
ENST00000695976.1:c.-418T>C	ENSP00000512303.1:n.-418T>C
ENST00000696032.1:c.-175T>C	ENSP00000512341.1:n.-175T>C
ENST00000696033.1:c.-175T>C	ENSP00000512342.1:n.-175T>C
ENST00000367429.8:c.-175T>C	ENSP00000356399.4:n.-175T>C
NM_000186.3:c.-175T>C , LRG_47t1:c.-175T>C	NP_000177.2:n.-175T>C
NM_001014975.2:c.-175T>C	NP_001014975.1:n.-175T>C