Canonical Allele Identifier: CA343984132

Gene: CFH

Linked Data

• dbSNP Id: rs932614951
• gnomAD v2: 1-196712758-G-C
• gnomAD v4: 1-196743628-G-C
• MyVariant Identifiers: chr1:g.196712758G>C (hg19) ; chr1:g.196743628G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196743628G>C , CM000663.2:g.196743628G>C	GRCh38
NC_000001.10:g.196712758G>C , CM000663.1:g.196712758G>C	GRCh37
NC_000001.9:g.194979381G>C	NCBI36
NG_007259.1:g.96618G>C , LRG_47:g.96618G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4338G>C
ENST00000695970.1:c.3136G>C	ENSP00000512297.1:p.Asp1046His
ENST00000695971.1:c.3289G>C	ENSP00000512298.1:p.Asp1097His
ENST00000695972.1:c.*387G>C	ENSP00000512299.1:n.*387G>C
ENST00000695973.1:c.*1674G>C	ENSP00000512300.1:n.*1674G>C
ENST00000695974.1:c.3133G>C	ENSP00000512301.1:p.Asp1045His
ENST00000695975.1:c.*1437G>C	ENSP00000512302.1:n.*1437G>C
ENST00000695976.1:c.3121G>C	ENSP00000512303.1:p.Asp1041His
ENST00000695981.1:c.3310G>C	ENSP00000512306.1:p.Asp1104His
ENST00000695984.1:c.1318G>C	ENSP00000512309.1:p.Asp440His
ENST00000695986.1:c.*2961G>C	ENSP00000512311.1:n.*2961G>C
ENST00000696026.1:c.*1592G>C	ENSP00000512335.1:n.*1592G>C
ENST00000696027.1:c.3304G>C	ENSP00000512336.1:p.Asp1102His
ENST00000696028.1:c.3238G>C	ENSP00000512337.1:p.Asp1080His
ENST00000696029.1:c.3304G>C	ENSP00000512338.1:p.Asp1102His
ENST00000696031.1:c.*2828G>C	ENSP00000512340.1:n.*2828G>C
ENST00000696032.1:c.3310G>C	ENSP00000512341.1:p.Asp1104His
ENST00000696033.1:c.1160-36169G>C	ENSP00000512342.1:n.1160-36169G>C
ENST00000367429.9:c.3310G>C MANE Select	ENSP00000356399.4:p.Asp1104His
ENST00000367429.8:c.3310G>C	ENSP00000356399.4:p.Asp1104His
ENST00000466229.5:n.6408G>C
NM_000186.3:c.3310G>C , LRG_47t1:c.3310G>C	NP_000177.2:p.Asp1104His
XR_001737134.2:n.3496G>C
NM_000186.4:c.3310G>C MANE Select	NP_000177.2:p.Asp1104His