Canonical Allele Identifier: CA6040957

Gene: BEST1 FTH1

Linked Data

• ClinVar Variation Id: 2180873
• ClinVar RCV Id: RCV002603043
• dbSNP Id: rs765333391
• ExAC: 11:61727378 T / C
• gnomAD v2: 11-61727378-T-C
• gnomAD v3: 11-61959906-T-C
• gnomAD v4: 11-61959906-T-C
• MyVariant Identifiers: chr11:g.61727378T>C (hg19) ; chr11:g.61959906T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61959906T>C , CM000673.2:g.61959906T>C	GRCh38
NC_000011.9:g.61727378T>C , CM000673.1:g.61727378T>C	GRCh37
NC_000011.8:g.61483954T>C	NCBI36
NG_009033.1:g.15023T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378043.9:c.963T>C (BEST1) MANE Select	ENSP00000367282.4:p.Ala321=
ENST00000378043.8:c.963T>C (BEST1)	ENSP00000367282.4:p.Ala321=
ENST00000449131.6:c.783T>C (BEST1)	ENSP00000399709.2:p.Ala261=
ENST00000524877.5:n.2594T>C (BEST1)
ENST00000524926.5:c.1166T>C (BEST1)	ENSP00000432681.1:p.Leu389Pro
ENST00000526988.1:c.848T>C (BEST1)	ENSP00000433195.1:p.Leu283Pro
ENST00000529191.5:c.136A>G (FTH1)	ENSP00000431659.1:p.Ser46Gly
ENST00000529631.5:c.115-2A>G (FTH1)	ENSP00000431575.1:n.115-2A>G
ENST00000530019.5:c.262-2A>G (FTH1)	ENSP00000433470.1:n.262-2A>G
ENST00000534553.5:c.164-2349T>C (BEST1)	ENSP00000431189.1:n.164-2349T>C
NM_001139443.1:c.783T>C (BEST1)	NP_001132915.1:p.Ala261=
NM_001300786.1:c.702T>C (BEST1)	NP_001287715.1:p.Ala234=
NM_001300787.1:c.783T>C (BEST1)	NP_001287716.1:p.Ala261=
NM_004183.3:c.963T>C (BEST1)	NP_004174.1:p.Ala321=
XM_005274210.2:c.963T>C (BEST1)	XP_005274267.1:p.Ala321=
XM_005274215.2:c.645T>C (BEST1)	XP_005274272.1:p.Ala215=
XM_005274216.2:c.986T>C (BEST1)	XP_005274273.1:p.Leu329Pro
XM_005274218.3:c.848T>C (BEST1)	XP_005274275.1:p.Leu283Pro
XM_005274219.2:c.867+1608T>C (BEST1)	XP_005274276.1:n.867+1608T>C
XM_005274221.2:c.715-2349T>C (BEST1)	XP_005274278.1:n.715-2349T>C
XM_011545229.1:c.963T>C (BEST1)	XP_011543531.1:p.Ala321=
XM_011545230.1:c.870T>C (BEST1)	XP_011543532.1:p.Ala290=
XM_011545231.1:c.645T>C (BEST1)	XP_011543533.1:p.Ala215=
XM_011545232.1:c.1166T>C (BEST1)	XP_011543534.1:p.Leu389Pro
XM_011545233.1:c.120T>C (BEST1)	XP_011543535.1:p.Ala40=
NM_001363591.1:c.645T>C (BEST1)	NP_001350520.1:p.Ala215=
NM_001363592.1:c.1166T>C (BEST1)	NP_001350521.1:p.Leu389Pro
NM_001363593.1:c.-10T>C (BEST1)	NP_001350522.1:n.-10T>C
NR_134580.1:n.1746T>C (BEST1)
XM_005274210.4:c.963T>C (BEST1)	XP_005274267.1:p.Ala321=
XM_005274215.4:c.645T>C (BEST1)	XP_005274272.1:p.Ala215=
XM_005274216.4:c.986T>C (BEST1)	XP_005274273.1:p.Leu329Pro
XM_005274219.4:c.867+1608T>C (BEST1)	XP_005274276.1:n.867+1608T>C
XM_005274221.4:c.715-2349T>C (BEST1)	XP_005274278.1:n.715-2349T>C
XM_011545229.3:c.963T>C (BEST1)	XP_011543531.1:p.Ala321=
XM_011545230.3:c.870T>C (BEST1)	XP_011543532.1:p.Ala290=
XM_011545233.3:c.120T>C (BEST1)	XP_011543535.1:p.Ala40=
XM_017018230.2:c.848T>C (BEST1)	XP_016873719.1:p.Leu283Pro
XR_001747952.2:n.1664T>C (BEST1)
XR_001747953.2:n.1557+1608T>C (BEST1)
XR_001747954.2:n.1405-2349T>C (BEST1)
XR_001748245.1:n.22A>G
XR_002957249.1:n.22A>G
NM_004183.4:c.963T>C (BEST1) MANE Select	NP_004174.1:p.Ala321=
NM_001139443.2:c.783T>C (BEST1)	NP_001132915.1:p.Ala261=
NM_001300786.2:c.702T>C (BEST1)	NP_001287715.1:p.Ala234=
NM_001300787.2:c.783T>C (BEST1)	NP_001287716.1:p.Ala261=
NM_001363591.2:c.645T>C (BEST1)	NP_001350520.1:p.Ala215=
NM_001363593.2:c.-10T>C (BEST1)	NP_001350522.1:n.-10T>C
NR_134580.2:n.1279T>C (BEST1)