Canonical Allele Identifier: CA380846204

Gene: BEST1 FTH1

Linked Data

• ClinVar Variation Id: 1709024
• ClinVar RCV Id: RCV002288308
• gnomAD v4: 11-61959956-G-A
• MyVariant Identifiers: chr11:g.61727428G>A (hg19) ; chr11:g.61959956G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61959956G>A , CM000673.2:g.61959956G>A	GRCh38
NC_000011.9:g.61727428G>A , CM000673.1:g.61727428G>A	GRCh37
NC_000011.8:g.61484004G>A	NCBI36
NG_009033.1:g.15073G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378043.9:c.1013G>A (BEST1) MANE Select	ENSP00000367282.4:p.Trp338Ter
ENST00000378043.8:c.1013G>A (BEST1)	ENSP00000367282.4:p.Trp338Ter
ENST00000449131.6:c.833G>A (BEST1)	ENSP00000399709.2:p.Trp278Ter
ENST00000524877.5:n.2644G>A (BEST1)
ENST00000524926.5:c.1216G>A (BEST1)	ENSP00000432681.1:p.Gly406Arg
ENST00000526988.1:c.898G>A (BEST1)	ENSP00000433195.1:p.Gly300Arg
ENST00000529191.5:c.115-29C>T (FTH1)	ENSP00000431659.1:n.115-29C>T
ENST00000529631.5:c.115-52C>T (FTH1)	ENSP00000431575.1:n.115-52C>T
ENST00000530019.5:c.262-52C>T (FTH1)	ENSP00000433470.1:n.262-52C>T
ENST00000534553.5:c.164-2299G>A (BEST1)	ENSP00000431189.1:n.164-2299G>A
NM_001139443.1:c.833G>A (BEST1)	NP_001132915.1:p.Trp278Ter
NM_001300786.1:c.752G>A (BEST1)	NP_001287715.1:p.Trp251Ter
NM_001300787.1:c.833G>A (BEST1)	NP_001287716.1:p.Trp278Ter
NM_004183.3:c.1013G>A (BEST1)	NP_004174.1:p.Trp338Ter
XM_005274210.2:c.1013G>A (BEST1)	XP_005274267.1:p.Trp338Ter
XM_005274215.2:c.695G>A (BEST1)	XP_005274272.1:p.Trp232Ter
XM_005274216.2:c.1036G>A (BEST1)	XP_005274273.1:p.Gly346Arg
XM_005274218.3:c.898G>A (BEST1)	XP_005274275.1:p.Gly300Arg
XM_005274219.2:c.867+1658G>A (BEST1)	XP_005274276.1:n.867+1658G>A
XM_005274221.2:c.715-2299G>A (BEST1)	XP_005274278.1:n.715-2299G>A
XM_011545229.1:c.1013G>A (BEST1)	XP_011543531.1:p.Trp338Ter
XM_011545230.1:c.920G>A (BEST1)	XP_011543532.1:p.Trp307Ter
XM_011545231.1:c.695G>A (BEST1)	XP_011543533.1:p.Trp232Ter
XM_011545232.1:c.1216G>A (BEST1)	XP_011543534.1:p.Gly406Arg
XM_011545233.1:c.170G>A (BEST1)	XP_011543535.1:p.Trp57Ter
NM_001363591.1:c.695G>A (BEST1)	NP_001350520.1:p.Trp232Ter
NM_001363592.1:c.1216G>A (BEST1)	NP_001350521.1:p.Gly406Arg
NM_001363593.1:c.41G>A (BEST1)	NP_001350522.1:p.Trp14Ter
NR_134580.1:n.1796G>A (BEST1)
XM_005274210.4:c.1013G>A (BEST1)	XP_005274267.1:p.Trp338Ter
XM_005274215.4:c.695G>A (BEST1)	XP_005274272.1:p.Trp232Ter
XM_005274216.4:c.1036G>A (BEST1)	XP_005274273.1:p.Gly346Arg
XM_005274219.4:c.867+1658G>A (BEST1)	XP_005274276.1:n.867+1658G>A
XM_005274221.4:c.715-2299G>A (BEST1)	XP_005274278.1:n.715-2299G>A
XM_011545229.3:c.1013G>A (BEST1)	XP_011543531.1:p.Trp338Ter
XM_011545230.3:c.920G>A (BEST1)	XP_011543532.1:p.Trp307Ter
XM_011545233.3:c.170G>A (BEST1)	XP_011543535.1:p.Trp57Ter
XM_017018230.2:c.898G>A (BEST1)	XP_016873719.1:p.Gly300Arg
XR_001747952.2:n.1714G>A (BEST1)
XR_001747953.2:n.1557+1658G>A (BEST1)
XR_001747954.2:n.1405-2299G>A (BEST1)
NM_004183.4:c.1013G>A (BEST1) MANE Select	NP_004174.1:p.Trp338Ter
NM_001139443.2:c.833G>A (BEST1)	NP_001132915.1:p.Trp278Ter
NM_001300786.2:c.752G>A (BEST1)	NP_001287715.1:p.Trp251Ter
NM_001300787.2:c.833G>A (BEST1)	NP_001287716.1:p.Trp278Ter
NM_001363591.2:c.695G>A (BEST1)	NP_001350520.1:p.Trp232Ter
NM_001363593.2:c.41G>A (BEST1)	NP_001350522.1:p.Trp14Ter
NR_134580.2:n.1329G>A (BEST1)