Canonical Allele Identifier: CA380846215

Gene: BEST1 FTH1

Linked Data

• ClinVar Variation Id: 1162163
• ClinVar RCV Id: RCV001506938
• dbSNP Id: rs2134455868
• gnomAD v4: 11-61959960-T-C
• MyVariant Identifiers: chr11:g.61727432T>C (hg19) ; chr11:g.61959960T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61959960T>C , CM000673.2:g.61959960T>C	GRCh38
NC_000011.9:g.61727432T>C , CM000673.1:g.61727432T>C	GRCh37
NC_000011.8:g.61484008T>C	NCBI36
NG_009033.1:g.15077T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378043.9:c.1017T>C (BEST1) MANE Select	ENSP00000367282.4:p.Asn339=
ENST00000378043.8:c.1017T>C (BEST1)	ENSP00000367282.4:p.Asn339=
ENST00000449131.6:c.837T>C (BEST1)	ENSP00000399709.2:p.Asn279=
ENST00000524877.5:n.2648T>C (BEST1)
ENST00000524926.5:c.1220T>C (BEST1)	ENSP00000432681.1:p.Ile407Thr
ENST00000526988.1:c.902T>C (BEST1)	ENSP00000433195.1:p.Ile301Thr
ENST00000529191.5:c.115-33A>G (FTH1)	ENSP00000431659.1:n.115-33A>G
ENST00000529631.5:c.115-56A>G (FTH1)	ENSP00000431575.1:n.115-56A>G
ENST00000530019.5:c.262-56A>G (FTH1)	ENSP00000433470.1:n.262-56A>G
ENST00000534553.5:c.164-2295T>C (BEST1)	ENSP00000431189.1:n.164-2295T>C
NM_001139443.1:c.837T>C (BEST1)	NP_001132915.1:p.Asn279=
NM_001300786.1:c.756T>C (BEST1)	NP_001287715.1:p.Asn252=
NM_001300787.1:c.837T>C (BEST1)	NP_001287716.1:p.Asn279=
NM_004183.3:c.1017T>C (BEST1)	NP_004174.1:p.Asn339=
XM_005274210.2:c.1017T>C (BEST1)	XP_005274267.1:p.Asn339=
XM_005274215.2:c.699T>C (BEST1)	XP_005274272.1:p.Asn233=
XM_005274216.2:c.1040T>C (BEST1)	XP_005274273.1:p.Ile347Thr
XM_005274218.3:c.902T>C (BEST1)	XP_005274275.1:p.Ile301Thr
XM_005274219.2:c.867+1662T>C (BEST1)	XP_005274276.1:n.867+1662T>C
XM_005274221.2:c.715-2295T>C (BEST1)	XP_005274278.1:n.715-2295T>C
XM_011545229.1:c.1017T>C (BEST1)	XP_011543531.1:p.Asn339=
XM_011545230.1:c.924T>C (BEST1)	XP_011543532.1:p.Asn308=
XM_011545231.1:c.699T>C (BEST1)	XP_011543533.1:p.Asn233=
XM_011545232.1:c.1220T>C (BEST1)	XP_011543534.1:p.Ile407Thr
XM_011545233.1:c.174T>C (BEST1)	XP_011543535.1:p.Asn58=
NM_001363591.1:c.699T>C (BEST1)	NP_001350520.1:p.Asn233=
NM_001363592.1:c.1220T>C (BEST1)	NP_001350521.1:p.Ile407Thr
NM_001363593.1:c.45T>C (BEST1)	NP_001350522.1:p.Asn15=
NR_134580.1:n.1800T>C (BEST1)
XM_005274210.4:c.1017T>C (BEST1)	XP_005274267.1:p.Asn339=
XM_005274215.4:c.699T>C (BEST1)	XP_005274272.1:p.Asn233=
XM_005274216.4:c.1040T>C (BEST1)	XP_005274273.1:p.Ile347Thr
XM_005274219.4:c.867+1662T>C (BEST1)	XP_005274276.1:n.867+1662T>C
XM_005274221.4:c.715-2295T>C (BEST1)	XP_005274278.1:n.715-2295T>C
XM_011545229.3:c.1017T>C (BEST1)	XP_011543531.1:p.Asn339=
XM_011545230.3:c.924T>C (BEST1)	XP_011543532.1:p.Asn308=
XM_011545233.3:c.174T>C (BEST1)	XP_011543535.1:p.Asn58=
XM_017018230.2:c.902T>C (BEST1)	XP_016873719.1:p.Ile301Thr
XR_001747952.2:n.1718T>C (BEST1)
XR_001747953.2:n.1557+1662T>C (BEST1)
XR_001747954.2:n.1405-2295T>C (BEST1)
NM_004183.4:c.1017T>C (BEST1) MANE Select	NP_004174.1:p.Asn339=
NM_001139443.2:c.837T>C (BEST1)	NP_001132915.1:p.Asn279=
NM_001300786.2:c.756T>C (BEST1)	NP_001287715.1:p.Asn252=
NM_001300787.2:c.837T>C (BEST1)	NP_001287716.1:p.Asn279=
NM_001363591.2:c.699T>C (BEST1)	NP_001350520.1:p.Asn233=
NM_001363593.2:c.45T>C (BEST1)	NP_001350522.1:p.Asn15=
NR_134580.2:n.1333T>C (BEST1)