Canonical Allele Identifier: CA343988224

Gene: CFH

Linked Data

• MyVariant Identifiers: chr1:g.196716389G>T (hg19) ; chr1:g.196747259G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747259G>T , CM000663.2:g.196747259G>T	GRCh38
NC_000001.10:g.196716389G>T , CM000663.1:g.196716389G>T	GRCh37
NC_000001.9:g.194983012G>T	NCBI36
NG_007259.1:g.100249G>T , LRG_47:g.100249G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4670G>T
ENST00000695970.1:c.3468G>T	ENSP00000512297.1:p.Leu1156Phe
ENST00000695971.1:c.3621G>T	ENSP00000512298.1:p.Leu1207Phe
ENST00000695972.1:c.*719G>T	ENSP00000512299.1:n.*719G>T
ENST00000695973.1:c.*2006G>T	ENSP00000512300.1:n.*2006G>T
ENST00000695974.1:c.3465G>T	ENSP00000512301.1:p.Leu1155Phe
ENST00000695975.1:c.*1769G>T	ENSP00000512302.1:n.*1769G>T
ENST00000695976.1:c.3453G>T	ENSP00000512303.1:p.Leu1151Phe
ENST00000695981.1:c.3580+62G>T	ENSP00000512306.1:n.3580+62G>T
ENST00000695984.1:c.1650G>T	ENSP00000512309.1:p.Leu550Phe
ENST00000695986.1:c.*3293G>T	ENSP00000512311.1:n.*3293G>T
ENST00000695990.1:n.676G>T
ENST00000696026.1:c.*1924G>T	ENSP00000512335.1:n.*1924G>T
ENST00000696027.1:c.3636G>T	ENSP00000512336.1:p.Leu1212Phe
ENST00000696028.1:c.3570G>T	ENSP00000512337.1:p.Leu1190Phe
ENST00000696029.1:c.3636G>T	ENSP00000512338.1:p.Leu1212Phe
ENST00000696031.1:c.*3160G>T	ENSP00000512340.1:n.*3160G>T
ENST00000696032.1:c.3580+62G>T	ENSP00000512341.1:n.3580+62G>T
ENST00000696033.1:c.1160-32538G>T	ENSP00000512342.1:n.1160-32538G>T
ENST00000367429.9:c.3642G>T MANE Select	ENSP00000356399.4:p.Leu1214Phe
ENST00000367429.8:c.3642G>T	ENSP00000356399.4:p.Leu1214Phe
ENST00000466229.5:n.6740G>T
NM_000186.3:c.3642G>T , LRG_47t1:c.3642G>T	NP_000177.2:p.Leu1214Phe
XR_001737134.2:n.3828G>T
NM_000186.4:c.3642G>T MANE Select	NP_000177.2:p.Leu1214Phe