Canonical Allele Identifier: CA222939938

Gene: BEST1 FTH1

Linked Data

• dbSNP Id: rs948034277
• gnomAD v3: 11-61959974-A-G
• gnomAD v4: 11-61959974-A-G
• MyVariant Identifiers: chr11:g.61727446A>G (hg19) ; chr11:g.61959974A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61959974A>G , CM000673.2:g.61959974A>G	GRCh38
NC_000011.9:g.61727446A>G , CM000673.1:g.61727446A>G	GRCh37
NC_000011.8:g.61484022A>G	NCBI36
NG_009033.1:g.15091A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378043.9:c.1031A>G (BEST1) MANE Select	ENSP00000367282.4:p.Gln344Arg
ENST00000378043.8:c.1031A>G (BEST1)	ENSP00000367282.4:p.Gln344Arg
ENST00000449131.6:c.851A>G (BEST1)	ENSP00000399709.2:p.Gln284Arg
ENST00000524877.5:n.2662A>G (BEST1)
ENST00000524926.5:c.1234A>G (BEST1)	ENSP00000432681.1:p.Ser412Gly
ENST00000526988.1:c.916A>G (BEST1)	ENSP00000433195.1:p.Ser306Gly
ENST00000529191.5:c.115-47T>C (FTH1)	ENSP00000431659.1:n.115-47T>C
ENST00000529631.5:c.115-70T>C (FTH1)	ENSP00000431575.1:n.115-70T>C
ENST00000530019.5:c.262-70T>C (FTH1)	ENSP00000433470.1:n.262-70T>C
ENST00000534553.5:c.164-2281A>G (BEST1)	ENSP00000431189.1:n.164-2281A>G
NM_001139443.1:c.851A>G (BEST1)	NP_001132915.1:p.Gln284Arg
NM_001300786.1:c.770A>G (BEST1)	NP_001287715.1:p.Gln257Arg
NM_001300787.1:c.851A>G (BEST1)	NP_001287716.1:p.Gln284Arg
NM_004183.3:c.1031A>G (BEST1)	NP_004174.1:p.Gln344Arg
XM_005274210.2:c.1031A>G (BEST1)	XP_005274267.1:p.Gln344Arg
XM_005274215.2:c.713A>G (BEST1)	XP_005274272.1:p.Gln238Arg
XM_005274216.2:c.1054A>G (BEST1)	XP_005274273.1:p.Ser352Gly
XM_005274218.3:c.916A>G (BEST1)	XP_005274275.1:p.Ser306Gly
XM_005274219.2:c.867+1676A>G (BEST1)	XP_005274276.1:n.867+1676A>G
XM_005274221.2:c.715-2281A>G (BEST1)	XP_005274278.1:n.715-2281A>G
XM_011545229.1:c.1031A>G (BEST1)	XP_011543531.1:p.Gln344Arg
XM_011545230.1:c.938A>G (BEST1)	XP_011543532.1:p.Gln313Arg
XM_011545231.1:c.713A>G (BEST1)	XP_011543533.1:p.Gln238Arg
XM_011545232.1:c.1234A>G (BEST1)	XP_011543534.1:p.Ser412Gly
XM_011545233.1:c.188A>G (BEST1)	XP_011543535.1:p.Gln63Arg
NM_001363591.1:c.713A>G (BEST1)	NP_001350520.1:p.Gln238Arg
NM_001363592.1:c.1234A>G (BEST1)	NP_001350521.1:p.Ser412Gly
NM_001363593.1:c.59A>G (BEST1)	NP_001350522.1:p.Gln20Arg
NR_134580.1:n.1814A>G (BEST1)
XM_005274210.4:c.1031A>G (BEST1)	XP_005274267.1:p.Gln344Arg
XM_005274215.4:c.713A>G (BEST1)	XP_005274272.1:p.Gln238Arg
XM_005274216.4:c.1054A>G (BEST1)	XP_005274273.1:p.Ser352Gly
XM_005274219.4:c.867+1676A>G (BEST1)	XP_005274276.1:n.867+1676A>G
XM_005274221.4:c.715-2281A>G (BEST1)	XP_005274278.1:n.715-2281A>G
XM_011545229.3:c.1031A>G (BEST1)	XP_011543531.1:p.Gln344Arg
XM_011545230.3:c.938A>G (BEST1)	XP_011543532.1:p.Gln313Arg
XM_011545233.3:c.188A>G (BEST1)	XP_011543535.1:p.Gln63Arg
XM_017018230.2:c.916A>G (BEST1)	XP_016873719.1:p.Ser306Gly
XR_001747952.2:n.1732A>G (BEST1)
XR_001747953.2:n.1557+1676A>G (BEST1)
XR_001747954.2:n.1405-2281A>G (BEST1)
NM_004183.4:c.1031A>G (BEST1) MANE Select	NP_004174.1:p.Gln344Arg
NM_001139443.2:c.851A>G (BEST1)	NP_001132915.1:p.Gln284Arg
NM_001300786.2:c.770A>G (BEST1)	NP_001287715.1:p.Gln257Arg
NM_001300787.2:c.851A>G (BEST1)	NP_001287716.1:p.Gln284Arg
NM_001363591.2:c.713A>G (BEST1)	NP_001350520.1:p.Gln238Arg
NM_001363593.2:c.59A>G (BEST1)	NP_001350522.1:p.Gln20Arg
NR_134580.2:n.1347A>G (BEST1)