Canonical Allele Identifier: CA343986940

Gene: CFH

Linked Data

• gnomAD v4: 1-196747114-C-T
• MyVariant Identifiers: chr1:g.196716244C>T (hg19) ; chr1:g.196747114C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747114C>T , CM000663.2:g.196747114C>T	GRCh38
NC_000001.10:g.196716244C>T , CM000663.1:g.196716244C>T	GRCh37
NC_000001.9:g.194982867C>T	NCBI36
NG_007259.1:g.100104C>T , LRG_47:g.100104C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4525C>T
ENST00000695970.1:c.3323C>T	ENSP00000512297.1:p.Pro1108Leu
ENST00000695971.1:c.3476C>T	ENSP00000512298.1:p.Pro1159Leu
ENST00000695972.1:c.*574C>T	ENSP00000512299.1:n.*574C>T
ENST00000695973.1:c.*1861C>T	ENSP00000512300.1:n.*1861C>T
ENST00000695974.1:c.3320C>T	ENSP00000512301.1:p.Pro1107Leu
ENST00000695975.1:c.*1624C>T	ENSP00000512302.1:n.*1624C>T
ENST00000695976.1:c.3308C>T	ENSP00000512303.1:p.Pro1103Leu
ENST00000695981.1:c.3497C>T	ENSP00000512306.1:p.Pro1166Leu
ENST00000695984.1:c.1505C>T	ENSP00000512309.1:p.Pro502Leu
ENST00000695986.1:c.*3148C>T	ENSP00000512311.1:n.*3148C>T
ENST00000695990.1:n.531C>T
ENST00000696026.1:c.*1779C>T	ENSP00000512335.1:n.*1779C>T
ENST00000696027.1:c.3491C>T	ENSP00000512336.1:p.Pro1164Leu
ENST00000696028.1:c.3425C>T	ENSP00000512337.1:p.Pro1142Leu
ENST00000696029.1:c.3491C>T	ENSP00000512338.1:p.Pro1164Leu
ENST00000696031.1:c.*3015C>T	ENSP00000512340.1:n.*3015C>T
ENST00000696032.1:c.3497C>T	ENSP00000512341.1:p.Pro1166Leu
ENST00000696033.1:c.1160-32683C>T	ENSP00000512342.1:n.1160-32683C>T
ENST00000367429.9:c.3497C>T MANE Select	ENSP00000356399.4:p.Pro1166Leu
ENST00000367429.8:c.3497C>T	ENSP00000356399.4:p.Pro1166Leu
ENST00000466229.5:n.6595C>T
NM_000186.3:c.3497C>T , LRG_47t1:c.3497C>T	NP_000177.2:p.Pro1166Leu
XR_001737134.2:n.3683C>T
NM_000186.4:c.3497C>T MANE Select	NP_000177.2:p.Pro1166Leu