Canonical Allele Identifier: CA343983929

Gene: CFH

Linked Data

• MyVariant Identifiers: chr1:g.196712716A>C (hg19) ; chr1:g.196743586A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196743586A>C , CM000663.2:g.196743586A>C	GRCh38
NC_000001.10:g.196712716A>C , CM000663.1:g.196712716A>C	GRCh37
NC_000001.9:g.194979339A>C	NCBI36
NG_007259.1:g.96576A>C , LRG_47:g.96576A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4296A>C
ENST00000695970.1:c.3094A>C	ENSP00000512297.1:p.Met1032Leu
ENST00000695971.1:c.3247A>C	ENSP00000512298.1:p.Met1083Leu
ENST00000695972.1:c.*345A>C	ENSP00000512299.1:n.*345A>C
ENST00000695973.1:c.*1632A>C	ENSP00000512300.1:n.*1632A>C
ENST00000695974.1:c.3091A>C	ENSP00000512301.1:p.Met1031Leu
ENST00000695975.1:c.*1395A>C	ENSP00000512302.1:n.*1395A>C
ENST00000695976.1:c.3079A>C	ENSP00000512303.1:p.Met1027Leu
ENST00000695981.1:c.3268A>C	ENSP00000512306.1:p.Met1090Leu
ENST00000695984.1:c.1276A>C	ENSP00000512309.1:p.Met426Leu
ENST00000695986.1:c.*2919A>C	ENSP00000512311.1:n.*2919A>C
ENST00000696026.1:c.*1550A>C	ENSP00000512335.1:n.*1550A>C
ENST00000696027.1:c.3262A>C	ENSP00000512336.1:p.Met1088Leu
ENST00000696028.1:c.3196A>C	ENSP00000512337.1:p.Met1066Leu
ENST00000696029.1:c.3262A>C	ENSP00000512338.1:p.Met1088Leu
ENST00000696031.1:c.*2786A>C	ENSP00000512340.1:n.*2786A>C
ENST00000696032.1:c.3268A>C	ENSP00000512341.1:p.Met1090Leu
ENST00000696033.1:c.1160-36211A>C	ENSP00000512342.1:n.1160-36211A>C
ENST00000367429.9:c.3268A>C MANE Select	ENSP00000356399.4:p.Met1090Leu
ENST00000367429.8:c.3268A>C	ENSP00000356399.4:p.Met1090Leu
ENST00000466229.5:n.6366A>C
NM_000186.3:c.3268A>C , LRG_47t1:c.3268A>C	NP_000177.2:p.Met1090Leu
XR_001737134.2:n.3454A>C
NM_000186.4:c.3268A>C MANE Select	NP_000177.2:p.Met1090Leu