Canonical Allele Identifier: CA6040964

Gene: BEST1 FTH1

Linked Data

• ClinVar Variation Id: 1037476
• ClinVar RCV Id: RCV001340636
• dbSNP Id: rs148326372
• ExAC: 11:61727416 C / T
• gnomAD v2: 11-61727416-C-T
• gnomAD v3: 11-61959944-C-T
• gnomAD v4: 11-61959944-C-T
• MyVariant Identifiers: chr11:g.61727416C>T (hg19) ; chr11:g.61959944C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61959944C>T , CM000673.2:g.61959944C>T	GRCh38
NC_000011.9:g.61727416C>T , CM000673.1:g.61727416C>T	GRCh37
NC_000011.8:g.61483992C>T	NCBI36
NG_009033.1:g.15061C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378043.9:c.1001C>T (BEST1) MANE Select	ENSP00000367282.4:p.Pro334Leu
ENST00000378043.8:c.1001C>T (BEST1)	ENSP00000367282.4:p.Pro334Leu
ENST00000449131.6:c.821C>T (BEST1)	ENSP00000399709.2:p.Pro274Leu
ENST00000524877.5:n.2632C>T (BEST1)
ENST00000524926.5:c.1204C>T (BEST1)	ENSP00000432681.1:p.Arg402Trp
ENST00000526988.1:c.886C>T (BEST1)	ENSP00000433195.1:p.Arg296Trp
ENST00000529191.5:c.115-17G>A (FTH1)	ENSP00000431659.1:n.115-17G>A
ENST00000529631.5:c.115-40G>A (FTH1)	ENSP00000431575.1:n.115-40G>A
ENST00000530019.5:c.262-40G>A (FTH1)	ENSP00000433470.1:n.262-40G>A
ENST00000534553.5:c.164-2311C>T (BEST1)	ENSP00000431189.1:n.164-2311C>T
NM_001139443.1:c.821C>T (BEST1)	NP_001132915.1:p.Pro274Leu
NM_001300786.1:c.740C>T (BEST1)	NP_001287715.1:p.Pro247Leu
NM_001300787.1:c.821C>T (BEST1)	NP_001287716.1:p.Pro274Leu
NM_004183.3:c.1001C>T (BEST1)	NP_004174.1:p.Pro334Leu
XM_005274210.2:c.1001C>T (BEST1)	XP_005274267.1:p.Pro334Leu
XM_005274215.2:c.683C>T (BEST1)	XP_005274272.1:p.Pro228Leu
XM_005274216.2:c.1024C>T (BEST1)	XP_005274273.1:p.Arg342Trp
XM_005274218.3:c.886C>T (BEST1)	XP_005274275.1:p.Arg296Trp
XM_005274219.2:c.867+1646C>T (BEST1)	XP_005274276.1:n.867+1646C>T
XM_005274221.2:c.715-2311C>T (BEST1)	XP_005274278.1:n.715-2311C>T
XM_011545229.1:c.1001C>T (BEST1)	XP_011543531.1:p.Pro334Leu
XM_011545230.1:c.908C>T (BEST1)	XP_011543532.1:p.Pro303Leu
XM_011545231.1:c.683C>T (BEST1)	XP_011543533.1:p.Pro228Leu
XM_011545232.1:c.1204C>T (BEST1)	XP_011543534.1:p.Arg402Trp
XM_011545233.1:c.158C>T (BEST1)	XP_011543535.1:p.Pro53Leu
NM_001363591.1:c.683C>T (BEST1)	NP_001350520.1:p.Pro228Leu
NM_001363592.1:c.1204C>T (BEST1)	NP_001350521.1:p.Arg402Trp
NM_001363593.1:c.29C>T (BEST1)	NP_001350522.1:p.Pro10Leu
NR_134580.1:n.1784C>T (BEST1)
XM_005274210.4:c.1001C>T (BEST1)	XP_005274267.1:p.Pro334Leu
XM_005274215.4:c.683C>T (BEST1)	XP_005274272.1:p.Pro228Leu
XM_005274216.4:c.1024C>T (BEST1)	XP_005274273.1:p.Arg342Trp
XM_005274219.4:c.867+1646C>T (BEST1)	XP_005274276.1:n.867+1646C>T
XM_005274221.4:c.715-2311C>T (BEST1)	XP_005274278.1:n.715-2311C>T
XM_011545229.3:c.1001C>T (BEST1)	XP_011543531.1:p.Pro334Leu
XM_011545230.3:c.908C>T (BEST1)	XP_011543532.1:p.Pro303Leu
XM_011545233.3:c.158C>T (BEST1)	XP_011543535.1:p.Pro53Leu
XM_017018230.2:c.886C>T (BEST1)	XP_016873719.1:p.Arg296Trp
XR_001747952.2:n.1702C>T (BEST1)
XR_001747953.2:n.1557+1646C>T (BEST1)
XR_001747954.2:n.1405-2311C>T (BEST1)
NM_004183.4:c.1001C>T (BEST1) MANE Select	NP_004174.1:p.Pro334Leu
NM_001139443.2:c.821C>T (BEST1)	NP_001132915.1:p.Pro274Leu
NM_001300786.2:c.740C>T (BEST1)	NP_001287715.1:p.Pro247Leu
NM_001300787.2:c.821C>T (BEST1)	NP_001287716.1:p.Pro274Leu
NM_001363591.2:c.683C>T (BEST1)	NP_001350520.1:p.Pro228Leu
NM_001363593.2:c.29C>T (BEST1)	NP_001350522.1:p.Pro10Leu
NR_134580.2:n.1317C>T (BEST1)