Canonical Allele Identifier: CA222939794

Gene: BEST1 FTH1

Linked Data

• dbSNP Id: rs547017234
• gnomAD v4: 11-61959927-C-A
• MyVariant Identifiers: chr11:g.61727399C>A (hg19) ; chr11:g.61959927C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61959927C>A , CM000673.2:g.61959927C>A	GRCh38
NC_000011.9:g.61727399C>A , CM000673.1:g.61727399C>A	GRCh37
NC_000011.8:g.61483975C>A	NCBI36
NG_009033.1:g.15044C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378043.9:c.984C>A (BEST1) MANE Select	ENSP00000367282.4:p.Asp328Glu
ENST00000378043.8:c.984C>A (BEST1)	ENSP00000367282.4:p.Asp328Glu
ENST00000449131.6:c.804C>A (BEST1)	ENSP00000399709.2:p.Asp268Glu
ENST00000524877.5:n.2615C>A (BEST1)
ENST00000524926.5:c.1187C>A (BEST1)	ENSP00000432681.1:p.Thr396Asn
ENST00000526988.1:c.869C>A (BEST1)	ENSP00000433195.1:p.Thr290Asn
ENST00000529191.5:c.115G>T (FTH1)	ENSP00000431659.1:p.Val39Phe
ENST00000529631.5:c.115-23G>T (FTH1)	ENSP00000431575.1:n.115-23G>T
ENST00000530019.5:c.262-23G>T (FTH1)	ENSP00000433470.1:n.262-23G>T
ENST00000534553.5:c.164-2328C>A (BEST1)	ENSP00000431189.1:n.164-2328C>A
NM_001139443.1:c.804C>A (BEST1)	NP_001132915.1:p.Asp268Glu
NM_001300786.1:c.723C>A (BEST1)	NP_001287715.1:p.Asp241Glu
NM_001300787.1:c.804C>A (BEST1)	NP_001287716.1:p.Asp268Glu
NM_004183.3:c.984C>A (BEST1)	NP_004174.1:p.Asp328Glu
XM_005274210.2:c.984C>A (BEST1)	XP_005274267.1:p.Asp328Glu
XM_005274215.2:c.666C>A (BEST1)	XP_005274272.1:p.Asp222Glu
XM_005274216.2:c.1007C>A (BEST1)	XP_005274273.1:p.Thr336Asn
XM_005274218.3:c.869C>A (BEST1)	XP_005274275.1:p.Thr290Asn
XM_005274219.2:c.867+1629C>A (BEST1)	XP_005274276.1:n.867+1629C>A
XM_005274221.2:c.715-2328C>A (BEST1)	XP_005274278.1:n.715-2328C>A
XM_011545229.1:c.984C>A (BEST1)	XP_011543531.1:p.Asp328Glu
XM_011545230.1:c.891C>A (BEST1)	XP_011543532.1:p.Asp297Glu
XM_011545231.1:c.666C>A (BEST1)	XP_011543533.1:p.Asp222Glu
XM_011545232.1:c.1187C>A (BEST1)	XP_011543534.1:p.Thr396Asn
XM_011545233.1:c.141C>A (BEST1)	XP_011543535.1:p.Asp47Glu
NM_001363591.1:c.666C>A (BEST1)	NP_001350520.1:p.Asp222Glu
NM_001363592.1:c.1187C>A (BEST1)	NP_001350521.1:p.Thr396Asn
NM_001363593.1:c.12C>A (BEST1)	NP_001350522.1:p.Asp4Glu
NR_134580.1:n.1767C>A (BEST1)
XM_005274210.4:c.984C>A (BEST1)	XP_005274267.1:p.Asp328Glu
XM_005274215.4:c.666C>A (BEST1)	XP_005274272.1:p.Asp222Glu
XM_005274216.4:c.1007C>A (BEST1)	XP_005274273.1:p.Thr336Asn
XM_005274219.4:c.867+1629C>A (BEST1)	XP_005274276.1:n.867+1629C>A
XM_005274221.4:c.715-2328C>A (BEST1)	XP_005274278.1:n.715-2328C>A
XM_011545229.3:c.984C>A (BEST1)	XP_011543531.1:p.Asp328Glu
XM_011545230.3:c.891C>A (BEST1)	XP_011543532.1:p.Asp297Glu
XM_011545233.3:c.141C>A (BEST1)	XP_011543535.1:p.Asp47Glu
XM_017018230.2:c.869C>A (BEST1)	XP_016873719.1:p.Thr290Asn
XR_001747952.2:n.1685C>A (BEST1)
XR_001747953.2:n.1557+1629C>A (BEST1)
XR_001747954.2:n.1405-2328C>A (BEST1)
XR_001748245.1:n.1G>T
XR_002957249.1:n.1G>T
NM_004183.4:c.984C>A (BEST1) MANE Select	NP_004174.1:p.Asp328Glu
NM_001139443.2:c.804C>A (BEST1)	NP_001132915.1:p.Asp268Glu
NM_001300786.2:c.723C>A (BEST1)	NP_001287715.1:p.Asp241Glu
NM_001300787.2:c.804C>A (BEST1)	NP_001287716.1:p.Asp268Glu
NM_001363591.2:c.666C>A (BEST1)	NP_001350520.1:p.Asp222Glu
NM_001363593.2:c.12C>A (BEST1)	NP_001350522.1:p.Asp4Glu
NR_134580.2:n.1300C>A (BEST1)