Canonical Allele Identifier: CA343987124

Gene: CFH

Linked Data

• dbSNP Id: rs1238483393
• gnomAD v2: 1-196716267-A-T
• MyVariant Identifiers: chr1:g.196716267A>T (hg19) ; chr1:g.196747137A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747137A>T , CM000663.2:g.196747137A>T	GRCh38
NC_000001.10:g.196716267A>T , CM000663.1:g.196716267A>T	GRCh37
NC_000001.9:g.194982890A>T	NCBI36
NG_007259.1:g.100127A>T , LRG_47:g.100127A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4548A>T
ENST00000695970.1:c.3346A>T	ENSP00000512297.1:p.Met1116Leu
ENST00000695971.1:c.3499A>T	ENSP00000512298.1:p.Met1167Leu
ENST00000695972.1:c.*597A>T	ENSP00000512299.1:n.*597A>T
ENST00000695973.1:c.*1884A>T	ENSP00000512300.1:n.*1884A>T
ENST00000695974.1:c.3343A>T	ENSP00000512301.1:p.Met1115Leu
ENST00000695975.1:c.*1647A>T	ENSP00000512302.1:n.*1647A>T
ENST00000695976.1:c.3331A>T	ENSP00000512303.1:p.Met1111Leu
ENST00000695981.1:c.3520A>T	ENSP00000512306.1:p.Met1174Leu
ENST00000695984.1:c.1528A>T	ENSP00000512309.1:p.Met510Leu
ENST00000695986.1:c.*3171A>T	ENSP00000512311.1:n.*3171A>T
ENST00000695990.1:n.554A>T
ENST00000696026.1:c.*1802A>T	ENSP00000512335.1:n.*1802A>T
ENST00000696027.1:c.3514A>T	ENSP00000512336.1:p.Met1172Leu
ENST00000696028.1:c.3448A>T	ENSP00000512337.1:p.Met1150Leu
ENST00000696029.1:c.3514A>T	ENSP00000512338.1:p.Met1172Leu
ENST00000696031.1:c.*3038A>T	ENSP00000512340.1:n.*3038A>T
ENST00000696032.1:c.3520A>T	ENSP00000512341.1:p.Met1174Leu
ENST00000696033.1:c.1160-32660A>T	ENSP00000512342.1:n.1160-32660A>T
ENST00000367429.9:c.3520A>T MANE Select	ENSP00000356399.4:p.Met1174Leu
ENST00000367429.8:c.3520A>T	ENSP00000356399.4:p.Met1174Leu
ENST00000466229.5:n.6618A>T
NM_000186.3:c.3520A>T , LRG_47t1:c.3520A>T	NP_000177.2:p.Met1174Leu
XR_001737134.2:n.3706A>T
NM_000186.4:c.3520A>T MANE Select	NP_000177.2:p.Met1174Leu