Canonical Allele Identifier: CA343984126

Gene: CFH

Linked Data

• MyVariant Identifiers: chr1:g.196712756A>C (hg19) ; chr1:g.196743626A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196743626A>C , CM000663.2:g.196743626A>C	GRCh38
NC_000001.10:g.196712756A>C , CM000663.1:g.196712756A>C	GRCh37
NC_000001.9:g.194979379A>C	NCBI36
NG_007259.1:g.96616A>C , LRG_47:g.96616A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4336A>C
ENST00000695970.1:c.3134A>C	ENSP00000512297.1:p.Lys1045Thr
ENST00000695971.1:c.3287A>C	ENSP00000512298.1:p.Lys1096Thr
ENST00000695972.1:c.*385A>C	ENSP00000512299.1:n.*385A>C
ENST00000695973.1:c.*1672A>C	ENSP00000512300.1:n.*1672A>C
ENST00000695974.1:c.3131A>C	ENSP00000512301.1:p.Lys1044Thr
ENST00000695975.1:c.*1435A>C	ENSP00000512302.1:n.*1435A>C
ENST00000695976.1:c.3119A>C	ENSP00000512303.1:p.Lys1040Thr
ENST00000695981.1:c.3308A>C	ENSP00000512306.1:p.Lys1103Thr
ENST00000695984.1:c.1316A>C	ENSP00000512309.1:p.Lys439Thr
ENST00000695986.1:c.*2959A>C	ENSP00000512311.1:n.*2959A>C
ENST00000696026.1:c.*1590A>C	ENSP00000512335.1:n.*1590A>C
ENST00000696027.1:c.3302A>C	ENSP00000512336.1:p.Lys1101Thr
ENST00000696028.1:c.3236A>C	ENSP00000512337.1:p.Lys1079Thr
ENST00000696029.1:c.3302A>C	ENSP00000512338.1:p.Lys1101Thr
ENST00000696031.1:c.*2826A>C	ENSP00000512340.1:n.*2826A>C
ENST00000696032.1:c.3308A>C	ENSP00000512341.1:p.Lys1103Thr
ENST00000696033.1:c.1160-36171A>C	ENSP00000512342.1:n.1160-36171A>C
ENST00000367429.9:c.3308A>C MANE Select	ENSP00000356399.4:p.Lys1103Thr
ENST00000367429.8:c.3308A>C	ENSP00000356399.4:p.Lys1103Thr
ENST00000466229.5:n.6406A>C
NM_000186.3:c.3308A>C , LRG_47t1:c.3308A>C	NP_000177.2:p.Lys1103Thr
XR_001737134.2:n.3494A>C
NM_000186.4:c.3308A>C MANE Select	NP_000177.2:p.Lys1103Thr