Canonical Allele Identifier: CA343983980

Gene: CFH

Linked Data

• dbSNP Id: rs1369651853
• gnomAD v3: 1-196743595-A-C
• gnomAD v4: 1-196743595-A-C
• MyVariant Identifiers: chr1:g.196712725A>C (hg19) ; chr1:g.196743595A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196743595A>C , CM000663.2:g.196743595A>C	GRCh38
NC_000001.10:g.196712725A>C , CM000663.1:g.196712725A>C	GRCh37
NC_000001.9:g.194979348A>C	NCBI36
NG_007259.1:g.96585A>C , LRG_47:g.96585A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4305A>C
ENST00000695970.1:c.3103A>C	ENSP00000512297.1:p.Asn1035His
ENST00000695971.1:c.3256A>C	ENSP00000512298.1:p.Asn1086His
ENST00000695972.1:c.*354A>C	ENSP00000512299.1:n.*354A>C
ENST00000695973.1:c.*1641A>C	ENSP00000512300.1:n.*1641A>C
ENST00000695974.1:c.3100A>C	ENSP00000512301.1:p.Asn1034His
ENST00000695975.1:c.*1404A>C	ENSP00000512302.1:n.*1404A>C
ENST00000695976.1:c.3088A>C	ENSP00000512303.1:p.Asn1030His
ENST00000695981.1:c.3277A>C	ENSP00000512306.1:p.Asn1093His
ENST00000695984.1:c.1285A>C	ENSP00000512309.1:p.Asn429His
ENST00000695986.1:c.*2928A>C	ENSP00000512311.1:n.*2928A>C
ENST00000696026.1:c.*1559A>C	ENSP00000512335.1:n.*1559A>C
ENST00000696027.1:c.3271A>C	ENSP00000512336.1:p.Asn1091His
ENST00000696028.1:c.3205A>C	ENSP00000512337.1:p.Asn1069His
ENST00000696029.1:c.3271A>C	ENSP00000512338.1:p.Asn1091His
ENST00000696031.1:c.*2795A>C	ENSP00000512340.1:n.*2795A>C
ENST00000696032.1:c.3277A>C	ENSP00000512341.1:p.Asn1093His
ENST00000696033.1:c.1160-36202A>C	ENSP00000512342.1:n.1160-36202A>C
ENST00000367429.9:c.3277A>C MANE Select	ENSP00000356399.4:p.Asn1093His
ENST00000367429.8:c.3277A>C	ENSP00000356399.4:p.Asn1093His
ENST00000466229.5:n.6375A>C
NM_000186.3:c.3277A>C , LRG_47t1:c.3277A>C	NP_000177.2:p.Asn1093His
XR_001737134.2:n.3463A>C
NM_000186.4:c.3277A>C MANE Select	NP_000177.2:p.Asn1093His