Canonical Allele Identifier: CA6040977

Gene: BEST1 FTH1

Linked Data

• ClinVar Variation Id: 390960
• ClinVar RCV Id: RCV000425735 ; RCV000850038
• dbSNP Id: rs751707411
• ExAC: 11:61727482 G / A
• gnomAD v2: 11-61727482-G-A
• gnomAD v3: 11-61960010-G-A
• gnomAD v4: 11-61960010-G-A
• COSMIC: COSM2038053 ; COSM2038054
• MyVariant Identifiers: chr11:g.61727482G>A (hg19) ; chr11:g.61960010G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61960010G>A , CM000673.2:g.61960010G>A	GRCh38
NC_000011.9:g.61727482G>A , CM000673.1:g.61727482G>A	GRCh37
NC_000011.8:g.61484058G>A	NCBI36
NG_009033.1:g.15127G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000378043.9:c.1067G>A (BEST1) MANE Select	ENSP00000367282.4:p.Arg356Gln
ENST00000378043.8:c.1067G>A (BEST1)	ENSP00000367282.4:p.Arg356Gln
ENST00000449131.6:c.887G>A (BEST1)	ENSP00000399709.2:p.Arg296Gln
ENST00000524877.5:n.2698G>A (BEST1)
ENST00000524926.5:c.1270G>A (BEST1)	ENSP00000432681.1:p.Glu424Lys
ENST00000526988.1:c.952G>A (BEST1)	ENSP00000433195.1:p.Glu318Lys
ENST00000529191.5:c.115-83C>T (FTH1)	ENSP00000431659.1:n.115-83C>T
ENST00000529631.5:c.115-106C>T (FTH1)	ENSP00000431575.1:n.115-106C>T
ENST00000530019.5:c.262-106C>T (FTH1)	ENSP00000433470.1:n.262-106C>T
ENST00000534553.5:c.164-2245G>A (BEST1)	ENSP00000431189.1:n.164-2245G>A
NM_001139443.1:c.887G>A (BEST1)	NP_001132915.1:p.Arg296Gln
NM_001300786.1:c.806G>A (BEST1)	NP_001287715.1:p.Arg269Gln
NM_001300787.1:c.887G>A (BEST1)	NP_001287716.1:p.Arg296Gln
NM_004183.3:c.1067G>A (BEST1)	NP_004174.1:p.Arg356Gln
XM_005274210.2:c.1067G>A (BEST1)	XP_005274267.1:p.Arg356Gln
XM_005274215.2:c.749G>A (BEST1)	XP_005274272.1:p.Arg250Gln
XM_005274216.2:c.1090G>A (BEST1)	XP_005274273.1:p.Glu364Lys
XM_005274218.3:c.952G>A (BEST1)	XP_005274275.1:p.Glu318Lys
XM_005274219.2:c.867+1712G>A (BEST1)	XP_005274276.1:n.867+1712G>A
XM_005274221.2:c.715-2245G>A (BEST1)	XP_005274278.1:n.715-2245G>A
XM_011545229.1:c.1067G>A (BEST1)	XP_011543531.1:p.Arg356Gln
XM_011545230.1:c.974G>A (BEST1)	XP_011543532.1:p.Arg325Gln
XM_011545231.1:c.749G>A (BEST1)	XP_011543533.1:p.Arg250Gln
XM_011545232.1:c.1270G>A (BEST1)	XP_011543534.1:p.Glu424Lys
XM_011545233.1:c.224G>A (BEST1)	XP_011543535.1:p.Arg75Gln
NM_001363591.1:c.749G>A (BEST1)	NP_001350520.1:p.Arg250Gln
NM_001363592.1:c.1270G>A (BEST1)	NP_001350521.1:p.Glu424Lys
NM_001363593.1:c.95G>A (BEST1)	NP_001350522.1:p.Arg32Gln
NR_134580.1:n.1850G>A (BEST1)
XM_005274210.4:c.1067G>A (BEST1)	XP_005274267.1:p.Arg356Gln
XM_005274215.4:c.749G>A (BEST1)	XP_005274272.1:p.Arg250Gln
XM_005274216.4:c.1090G>A (BEST1)	XP_005274273.1:p.Glu364Lys
XM_005274219.4:c.867+1712G>A (BEST1)	XP_005274276.1:n.867+1712G>A
XM_005274221.4:c.715-2245G>A (BEST1)	XP_005274278.1:n.715-2245G>A
XM_011545229.3:c.1067G>A (BEST1)	XP_011543531.1:p.Arg356Gln
XM_011545230.3:c.974G>A (BEST1)	XP_011543532.1:p.Arg325Gln
XM_011545233.3:c.224G>A (BEST1)	XP_011543535.1:p.Arg75Gln
XM_017018230.2:c.952G>A (BEST1)	XP_016873719.1:p.Glu318Lys
XR_001747952.2:n.1768G>A (BEST1)
XR_001747953.2:n.1557+1712G>A (BEST1)
XR_001747954.2:n.1405-2245G>A (BEST1)
NM_004183.4:c.1067G>A (BEST1) MANE Select	NP_004174.1:p.Arg356Gln
NM_001139443.2:c.887G>A (BEST1)	NP_001132915.1:p.Arg296Gln
NM_001300786.2:c.806G>A (BEST1)	NP_001287715.1:p.Arg269Gln
NM_001300787.2:c.887G>A (BEST1)	NP_001287716.1:p.Arg296Gln
NM_001363591.2:c.749G>A (BEST1)	NP_001350520.1:p.Arg250Gln
NM_001363593.2:c.95G>A (BEST1)	NP_001350522.1:p.Arg32Gln
NR_134580.2:n.1383G>A (BEST1)