Canonical Allele Identifier: CA6040936

Gene: BEST1 FTH1

Linked Data

• dbSNP Id: rs558634295
• ExAC: 11:61727268 C / G
• gnomAD v2: 11-61727268-C-G
• gnomAD v3: 11-61959796-C-G
• gnomAD v4: 11-61959796-C-G
• MyVariant Identifiers: chr11:g.61727268C>G (hg19) ; chr11:g.61727268_61727270delinsGAG (hg19) ; chr11:g.61959796C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61959796C>G , CM000673.2:g.61959796C>G	GRCh38
NC_000011.9:g.61727268C>G , CM000673.1:g.61727268C>G	GRCh37
NC_000011.8:g.61483844C>G	NCBI36
NG_009033.1:g.14913C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378043.9:c.949-96C>G (BEST1) MANE Select	ENSP00000367282.4:n.949-96C>G
ENST00000378043.8:c.949-96C>G (BEST1)	ENSP00000367282.4:n.949-96C>G
ENST00000449131.6:c.769-96C>G (BEST1)	ENSP00000399709.2:n.769-96C>G
ENST00000524877.5:n.2580-96C>G (BEST1)
ENST00000524926.5:c.1152-96C>G (BEST1)	ENSP00000432681.1:n.1152-96C>G
ENST00000526988.1:c.834-96C>G (BEST1)	ENSP00000433195.1:n.834-96C>G
ENST00000529191.5:c.246G>C (FTH1)	ENSP00000431659.1:p.Leu82=
ENST00000529631.5:c.223G>C (FTH1)	ENSP00000431575.1:p.Gly75Arg
ENST00000534553.5:c.164-2459C>G (BEST1)	ENSP00000431189.1:n.164-2459C>G
NM_001139443.1:c.769-96C>G (BEST1)	NP_001132915.1:n.769-96C>G
NM_001300786.1:c.688-96C>G (BEST1)	NP_001287715.1:n.688-96C>G
NM_001300787.1:c.769-96C>G (BEST1)	NP_001287716.1:n.769-96C>G
NM_004183.3:c.949-96C>G (BEST1)	NP_004174.1:n.949-96C>G
XM_005274210.2:c.949-96C>G (BEST1)	XP_005274267.1:n.949-96C>G
XM_005274215.2:c.631-96C>G (BEST1)	XP_005274272.1:n.631-96C>G
XM_005274216.2:c.972-96C>G (BEST1)	XP_005274273.1:n.972-96C>G
XM_005274218.3:c.834-96C>G (BEST1)	XP_005274275.1:n.834-96C>G
XM_005274219.2:c.867+1498C>G (BEST1)	XP_005274276.1:n.867+1498C>G
XM_005274221.2:c.714+2332C>G (BEST1)	XP_005274278.1:n.714+2332C>G
XM_011545229.1:c.949-96C>G (BEST1)	XP_011543531.1:n.949-96C>G
XM_011545230.1:c.856-96C>G (BEST1)	XP_011543532.1:n.856-96C>G
XM_011545231.1:c.631-96C>G (BEST1)	XP_011543533.1:n.631-96C>G
XM_011545232.1:c.1152-96C>G (BEST1)	XP_011543534.1:n.1152-96C>G
XM_011545233.1:c.106-96C>G (BEST1)	XP_011543535.1:n.106-96C>G
NM_001363591.1:c.631-96C>G (BEST1)	NP_001350520.1:n.631-96C>G
NM_001363592.1:c.1152-96C>G (BEST1)	NP_001350521.1:n.1152-96C>G
NM_001363593.1:c.-24-96C>G (BEST1)	NP_001350522.1:n.-24-96C>G
NR_134580.1:n.1732-96C>G (BEST1)
XM_005274210.4:c.949-96C>G (BEST1)	XP_005274267.1:n.949-96C>G
XM_005274215.4:c.631-96C>G (BEST1)	XP_005274272.1:n.631-96C>G
XM_005274216.4:c.972-96C>G (BEST1)	XP_005274273.1:n.972-96C>G
XM_005274219.4:c.867+1498C>G (BEST1)	XP_005274276.1:n.867+1498C>G
XM_005274221.4:c.714+2332C>G (BEST1)	XP_005274278.1:n.714+2332C>G
XM_011545229.3:c.949-96C>G (BEST1)	XP_011543531.1:n.949-96C>G
XM_011545230.3:c.856-96C>G (BEST1)	XP_011543532.1:n.856-96C>G
XM_011545233.3:c.106-96C>G (BEST1)	XP_011543535.1:n.106-96C>G
XM_017018230.2:c.834-96C>G (BEST1)	XP_016873719.1:n.834-96C>G
XR_001747952.2:n.1650-96C>G (BEST1)
XR_001747953.2:n.1557+1498C>G (BEST1)
XR_001747954.2:n.1404+2332C>G (BEST1)
XR_001748245.1:n.132G>C
XR_002957249.1:n.132G>C
NM_004183.4:c.949-96C>G (BEST1) MANE Select	NP_004174.1:n.949-96C>G
NM_001139443.2:c.769-96C>G (BEST1)	NP_001132915.1:n.769-96C>G
NM_001300786.2:c.688-96C>G (BEST1)	NP_001287715.1:n.688-96C>G
NM_001300787.2:c.769-96C>G (BEST1)	NP_001287716.1:n.769-96C>G
NM_001363591.2:c.631-96C>G (BEST1)	NP_001350520.1:n.631-96C>G
NM_001363593.2:c.-24-96C>G (BEST1)	NP_001350522.1:n.-24-96C>G
NR_134580.2:n.1265-96C>G (BEST1)