Canonical Allele Identifier: CA422662869

Gene: CFH

Linked Data

• dbSNP Id: rs148069859
• gnomAD v2: 1-196712616-T-C
• gnomAD v4: 1-196743486-T-C
• MyVariant Identifiers: chr1:g.196712616T>C (hg19) ; chr1:g.196743486T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196743486T>C , CM000663.2:g.196743486T>C	GRCh38
NC_000001.10:g.196712616T>C , CM000663.1:g.196712616T>C	GRCh37
NC_000001.9:g.194979239T>C	NCBI36
NG_007259.1:g.96476T>C , LRG_47:g.96476T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4196T>C
ENST00000695970.1:c.2994T>C	ENSP00000512297.1:p.Asn998=
ENST00000695971.1:c.3147T>C	ENSP00000512298.1:p.Asn1049=
ENST00000695972.1:c.*245T>C	ENSP00000512299.1:n.*245T>C
ENST00000695973.1:c.*1532T>C	ENSP00000512300.1:n.*1532T>C
ENST00000695974.1:c.2991T>C	ENSP00000512301.1:p.Asn997=
ENST00000695975.1:c.*1295T>C	ENSP00000512302.1:n.*1295T>C
ENST00000695976.1:c.2979T>C	ENSP00000512303.1:p.Asn993=
ENST00000695981.1:c.3168T>C	ENSP00000512306.1:p.Asn1056=
ENST00000695984.1:c.1176T>C	ENSP00000512309.1:p.Asn392=
ENST00000695986.1:c.*2819T>C	ENSP00000512311.1:n.*2819T>C
ENST00000696026.1:c.*1450T>C	ENSP00000512335.1:n.*1450T>C
ENST00000696027.1:c.3162T>C	ENSP00000512336.1:p.Asn1054=
ENST00000696028.1:c.3096T>C	ENSP00000512337.1:p.Asn1032=
ENST00000696029.1:c.3162T>C	ENSP00000512338.1:p.Asn1054=
ENST00000696031.1:c.*2686T>C	ENSP00000512340.1:n.*2686T>C
ENST00000696032.1:c.3168T>C	ENSP00000512341.1:p.Asn1056=
ENST00000696033.1:c.1160-36311T>C	ENSP00000512342.1:n.1160-36311T>C
ENST00000367429.9:c.3168T>C MANE Select	ENSP00000356399.4:p.Asn1056=
ENST00000367429.8:c.3168T>C	ENSP00000356399.4:p.Asn1056=
ENST00000466229.5:n.6266T>C
NM_000186.3:c.3168T>C , LRG_47t1:c.3168T>C	NP_000177.2:p.Asn1056=
XR_001737134.2:n.3354T>C
NM_000186.4:c.3168T>C MANE Select	NP_000177.2:p.Asn1056=