Canonical Allele Identifier: CA343987679

Gene: CFH

Linked Data

• MyVariant Identifiers: chr1:g.196716317T>A (hg19) ; chr1:g.196747187T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747187T>A , CM000663.2:g.196747187T>A	GRCh38
NC_000001.10:g.196716317T>A , CM000663.1:g.196716317T>A	GRCh37
NC_000001.9:g.194982940T>A	NCBI36
NG_007259.1:g.100177T>A , LRG_47:g.100177T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000470918.2:n.4598T>A
ENST00000695970.1:c.3396T>A	ENSP00000512297.1:p.Tyr1132Ter
ENST00000695971.1:c.3549T>A	ENSP00000512298.1:p.Tyr1183Ter
ENST00000695972.1:c.*647T>A	ENSP00000512299.1:n.*647T>A
ENST00000695973.1:c.*1934T>A	ENSP00000512300.1:n.*1934T>A
ENST00000695974.1:c.3393T>A	ENSP00000512301.1:p.Tyr1131Ter
ENST00000695975.1:c.*1697T>A	ENSP00000512302.1:n.*1697T>A
ENST00000695976.1:c.3381T>A	ENSP00000512303.1:p.Tyr1127Ter
ENST00000695981.1:c.3570T>A	ENSP00000512306.1:p.Tyr1190Ter
ENST00000695984.1:c.1578T>A	ENSP00000512309.1:p.Tyr526Ter
ENST00000695986.1:c.*3221T>A	ENSP00000512311.1:n.*3221T>A
ENST00000695990.1:n.604T>A
ENST00000696026.1:c.*1852T>A	ENSP00000512335.1:n.*1852T>A
ENST00000696027.1:c.3564T>A	ENSP00000512336.1:p.Tyr1188Ter
ENST00000696028.1:c.3498T>A	ENSP00000512337.1:p.Tyr1166Ter
ENST00000696029.1:c.3564T>A	ENSP00000512338.1:p.Tyr1188Ter
ENST00000696031.1:c.*3088T>A	ENSP00000512340.1:n.*3088T>A
ENST00000696032.1:c.3570T>A	ENSP00000512341.1:p.Tyr1190Ter
ENST00000696033.1:c.1160-32610T>A	ENSP00000512342.1:n.1160-32610T>A
ENST00000367429.9:c.3570T>A MANE Select	ENSP00000356399.4:p.Tyr1190Ter
ENST00000367429.8:c.3570T>A	ENSP00000356399.4:p.Tyr1190Ter
ENST00000466229.5:n.6668T>A
NM_000186.3:c.3570T>A , LRG_47t1:c.3570T>A	NP_000177.2:p.Tyr1190Ter
XR_001737134.2:n.3756T>A
NM_000186.4:c.3570T>A MANE Select	NP_000177.2:p.Tyr1190Ter