Canonical Allele Identifier: CA343983936

Gene: CFH

Linked Data

• gnomAD v4: 1-196743587-T-C
• MyVariant Identifiers: chr1:g.196712717T>C (hg19) ; chr1:g.196743587T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196743587T>C , CM000663.2:g.196743587T>C	GRCh38
NC_000001.10:g.196712717T>C , CM000663.1:g.196712717T>C	GRCh37
NC_000001.9:g.194979340T>C	NCBI36
NG_007259.1:g.96577T>C , LRG_47:g.96577T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4297T>C
ENST00000695970.1:c.3095T>C	ENSP00000512297.1:p.Met1032Thr
ENST00000695971.1:c.3248T>C	ENSP00000512298.1:p.Met1083Thr
ENST00000695972.1:c.*346T>C	ENSP00000512299.1:n.*346T>C
ENST00000695973.1:c.*1633T>C	ENSP00000512300.1:n.*1633T>C
ENST00000695974.1:c.3092T>C	ENSP00000512301.1:p.Met1031Thr
ENST00000695975.1:c.*1396T>C	ENSP00000512302.1:n.*1396T>C
ENST00000695976.1:c.3080T>C	ENSP00000512303.1:p.Met1027Thr
ENST00000695981.1:c.3269T>C	ENSP00000512306.1:p.Met1090Thr
ENST00000695984.1:c.1277T>C	ENSP00000512309.1:p.Met426Thr
ENST00000695986.1:c.*2920T>C	ENSP00000512311.1:n.*2920T>C
ENST00000696026.1:c.*1551T>C	ENSP00000512335.1:n.*1551T>C
ENST00000696027.1:c.3263T>C	ENSP00000512336.1:p.Met1088Thr
ENST00000696028.1:c.3197T>C	ENSP00000512337.1:p.Met1066Thr
ENST00000696029.1:c.3263T>C	ENSP00000512338.1:p.Met1088Thr
ENST00000696031.1:c.*2787T>C	ENSP00000512340.1:n.*2787T>C
ENST00000696032.1:c.3269T>C	ENSP00000512341.1:p.Met1090Thr
ENST00000696033.1:c.1160-36210T>C	ENSP00000512342.1:n.1160-36210T>C
ENST00000367429.9:c.3269T>C MANE Select	ENSP00000356399.4:p.Met1090Thr
ENST00000367429.8:c.3269T>C	ENSP00000356399.4:p.Met1090Thr
ENST00000466229.5:n.6367T>C
NM_000186.3:c.3269T>C , LRG_47t1:c.3269T>C	NP_000177.2:p.Met1090Thr
XR_001737134.2:n.3455T>C
NM_000186.4:c.3269T>C MANE Select	NP_000177.2:p.Met1090Thr