Canonical Allele Identifier: CA227730

Gene: BEST1 FTH1

Linked Data

• ClinVar Variation Id: 99684
• ClinVar RCV Id: RCV000086092 ; RCV000311148 ; RCV000350824 ; RCV000362495 ; RCV000408253 ; RCV001108733
• dbSNP Id: rs147192139
• ExAC: 11:61730295 G / A
• gnomAD v2: 11-61730295-G-A
• gnomAD v3: 11-61962823-G-A
• gnomAD v4: 11-61962823-G-A
• MyVariant Identifiers: chr11:g.61730295G>A (hg19) ; chr11:g.61962823G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61962823G>A , CM000673.2:g.61962823G>A	GRCh38
NC_000011.9:g.61730295G>A , CM000673.1:g.61730295G>A	GRCh37
NC_000011.8:g.61486871G>A	NCBI36
NG_008346.1:g.9838C>T
NG_009033.1:g.17940G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378043.9:c.1669G>A (BEST1) MANE Select	ENSP00000367282.4:p.Glu557Lys
ENST00000378043.8:c.1669G>A (BEST1)	ENSP00000367282.4:p.Glu557Lys
ENST00000449131.6:c.1489G>A (BEST1)	ENSP00000399709.2:p.Glu497Lys
ENST00000524877.5:n.5511G>A (BEST1)
ENST00000524926.5:c.*564G>A (BEST1)	ENSP00000432681.1:n.*564G>A
ENST00000529191.5:c.115-2896C>T (FTH1)	ENSP00000431659.1:n.115-2896C>T
ENST00000529631.5:c.115-2919C>T (FTH1)	ENSP00000431575.1:n.115-2919C>T
ENST00000530019.5:c.261+2546C>T (FTH1)	ENSP00000433470.1:n.261+2546C>T
ENST00000534553.5:c.*564G>A (BEST1)	ENSP00000431189.1:n.*564G>A
NM_001139443.1:c.1489G>A (BEST1)	NP_001132915.1:p.Glu497Lys
NM_001300786.1:c.1408G>A (BEST1)	NP_001287715.1:p.Glu470Lys
NM_001300787.1:c.1489G>A (BEST1)	NP_001287716.1:p.Glu497Lys
NM_004183.3:c.1669G>A (BEST1)	NP_004174.1:p.Glu557Lys
XM_005274210.2:c.1669G>A (BEST1)	XP_005274267.1:p.Glu557Lys
XM_005274215.2:c.1351G>A (BEST1)	XP_005274272.1:p.Glu451Lys
XM_005274219.2:c.*470G>A (BEST1)	XP_005274276.1:n.*470G>A
XM_005274221.2:c.*470G>A (BEST1)	XP_005274278.1:n.*470G>A
XM_011545229.1:c.1669G>A (BEST1)	XP_011543531.1:p.Glu557Lys
XM_011545230.1:c.1576G>A (BEST1)	XP_011543532.1:p.Glu526Lys
XM_011545231.1:c.1351G>A (BEST1)	XP_011543533.1:p.Glu451Lys
XM_011545233.1:c.826G>A (BEST1)	XP_011543535.1:p.Glu276Lys
NM_001363591.1:c.1351G>A (BEST1)	NP_001350520.1:p.Glu451Lys
NM_001363592.1:c.*564G>A (BEST1)	NP_001350521.1:n.*564G>A
NM_001363593.1:c.697G>A (BEST1)	NP_001350522.1:p.Glu233Lys
NR_134580.1:n.2452G>A (BEST1)
XM_005274210.4:c.1669G>A (BEST1)	XP_005274267.1:p.Glu557Lys
XM_005274215.4:c.1351G>A (BEST1)	XP_005274272.1:p.Glu451Lys
XM_005274216.4:c.*564G>A (BEST1)	XP_005274273.1:n.*564G>A
XM_005274219.4:c.*470G>A (BEST1)	XP_005274276.1:n.*470G>A
XM_005274221.4:c.*470G>A (BEST1)	XP_005274278.1:n.*470G>A
XM_011545229.3:c.1669G>A (BEST1)	XP_011543531.1:p.Glu557Lys
XM_011545230.3:c.1576G>A (BEST1)	XP_011543532.1:p.Glu526Lys
XM_011545233.3:c.826G>A (BEST1)	XP_011543535.1:p.Glu276Lys
XM_017018230.2:c.*564G>A (BEST1)	XP_016873719.1:n.*564G>A
XR_001747952.2:n.2370G>A (BEST1)
XR_001747953.2:n.2126G>A (BEST1)
XR_001747954.2:n.1973G>A (BEST1)
NM_004183.4:c.1669G>A (BEST1) MANE Select	NP_004174.1:p.Glu557Lys
NM_001139443.2:c.1489G>A (BEST1)	NP_001132915.1:p.Glu497Lys
NM_001300786.2:c.1408G>A (BEST1)	NP_001287715.1:p.Glu470Lys
NM_001300787.2:c.1489G>A (BEST1)	NP_001287716.1:p.Glu497Lys
NM_001363591.2:c.1351G>A (BEST1)	NP_001350520.1:p.Glu451Lys
NM_001363593.2:c.697G>A (BEST1)	NP_001350522.1:p.Glu233Lys
NR_134580.2:n.1985G>A (BEST1)