Canonical Allele Identifier: CA380844533

Gene: BEST1 FTH1

Linked Data

• gnomAD v4: 11-61959749-C-A
• MyVariant Identifiers: chr11:g.61727221C>A (hg19) ; chr11:g.61959749C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61959749C>A , CM000673.2:g.61959749C>A	GRCh38
NC_000011.9:g.61727221C>A , CM000673.1:g.61727221C>A	GRCh37
NC_000011.8:g.61483797C>A	NCBI36
NG_009033.1:g.14866C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378043.9:c.949-143C>A (BEST1) MANE Select	ENSP00000367282.4:n.949-143C>A
ENST00000378043.8:c.949-143C>A (BEST1)	ENSP00000367282.4:n.949-143C>A
ENST00000449131.6:c.769-143C>A (BEST1)	ENSP00000399709.2:n.769-143C>A
ENST00000524877.5:n.2580-143C>A (BEST1)
ENST00000524926.5:c.1152-143C>A (BEST1)	ENSP00000432681.1:n.1152-143C>A
ENST00000526988.1:c.834-143C>A (BEST1)	ENSP00000433195.1:n.834-143C>A
ENST00000529191.5:c.293G>T (FTH1)	ENSP00000431659.1:p.Cys98Phe
ENST00000529631.5:c.*24G>T (FTH1)	ENSP00000431575.1:n.*24G>T
ENST00000534553.5:c.164-2506C>A (BEST1)	ENSP00000431189.1:n.164-2506C>A
NM_001139443.1:c.769-143C>A (BEST1)	NP_001132915.1:n.769-143C>A
NM_001300786.1:c.688-143C>A (BEST1)	NP_001287715.1:n.688-143C>A
NM_001300787.1:c.769-143C>A (BEST1)	NP_001287716.1:n.769-143C>A
NM_004183.3:c.949-143C>A (BEST1)	NP_004174.1:n.949-143C>A
XM_005274210.2:c.949-143C>A (BEST1)	XP_005274267.1:n.949-143C>A
XM_005274215.2:c.631-143C>A (BEST1)	XP_005274272.1:n.631-143C>A
XM_005274216.2:c.972-143C>A (BEST1)	XP_005274273.1:n.972-143C>A
XM_005274218.3:c.834-143C>A (BEST1)	XP_005274275.1:n.834-143C>A
XM_005274219.2:c.867+1451C>A (BEST1)	XP_005274276.1:n.867+1451C>A
XM_005274221.2:c.714+2285C>A (BEST1)	XP_005274278.1:n.714+2285C>A
XM_011545229.1:c.949-143C>A (BEST1)	XP_011543531.1:n.949-143C>A
XM_011545230.1:c.856-143C>A (BEST1)	XP_011543532.1:n.856-143C>A
XM_011545231.1:c.631-143C>A (BEST1)	XP_011543533.1:n.631-143C>A
XM_011545232.1:c.1152-143C>A (BEST1)	XP_011543534.1:n.1152-143C>A
XM_011545233.1:c.106-143C>A (BEST1)	XP_011543535.1:n.106-143C>A
NM_001363591.1:c.631-143C>A (BEST1)	NP_001350520.1:n.631-143C>A
NM_001363592.1:c.1152-143C>A (BEST1)	NP_001350521.1:n.1152-143C>A
NM_001363593.1:c.-24-143C>A (BEST1)	NP_001350522.1:n.-24-143C>A
NR_134580.1:n.1732-143C>A (BEST1)
XM_005274210.4:c.949-143C>A (BEST1)	XP_005274267.1:n.949-143C>A
XM_005274215.4:c.631-143C>A (BEST1)	XP_005274272.1:n.631-143C>A
XM_005274216.4:c.972-143C>A (BEST1)	XP_005274273.1:n.972-143C>A
XM_005274219.4:c.867+1451C>A (BEST1)	XP_005274276.1:n.867+1451C>A
XM_005274221.4:c.714+2285C>A (BEST1)	XP_005274278.1:n.714+2285C>A
XM_011545229.3:c.949-143C>A (BEST1)	XP_011543531.1:n.949-143C>A
XM_011545230.3:c.856-143C>A (BEST1)	XP_011543532.1:n.856-143C>A
XM_011545233.3:c.106-143C>A (BEST1)	XP_011543535.1:n.106-143C>A
XM_017018230.2:c.834-143C>A (BEST1)	XP_016873719.1:n.834-143C>A
XR_001747952.2:n.1650-143C>A (BEST1)
XR_001747953.2:n.1557+1451C>A (BEST1)
XR_001747954.2:n.1404+2285C>A (BEST1)
XR_001748245.1:n.179G>T
XR_002957249.1:n.179G>T
NM_004183.4:c.949-143C>A (BEST1) MANE Select	NP_004174.1:n.949-143C>A
NM_001139443.2:c.769-143C>A (BEST1)	NP_001132915.1:n.769-143C>A
NM_001300786.2:c.688-143C>A (BEST1)	NP_001287715.1:n.688-143C>A
NM_001300787.2:c.769-143C>A (BEST1)	NP_001287716.1:n.769-143C>A
NM_001363591.2:c.631-143C>A (BEST1)	NP_001350520.1:n.631-143C>A
NM_001363593.2:c.-24-143C>A (BEST1)	NP_001350522.1:n.-24-143C>A
NR_134580.2:n.1265-143C>A (BEST1)