Canonical Allele Identifier: CA380846262

Gene: BEST1 FTH1

Linked Data

• ClinVar Variation Id: 972579
• ClinVar RCV Id: RCV001248641
• dbSNP Id: rs1481681066
• gnomAD v2: 11-61727451-C-G
• gnomAD v4: 11-61959979-C-G
• MyVariant Identifiers: chr11:g.61727451C>G (hg19) ; chr11:g.61959979C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61959979C>G , CM000673.2:g.61959979C>G	GRCh38
NC_000011.9:g.61727451C>G , CM000673.1:g.61727451C>G	GRCh37
NC_000011.8:g.61484027C>G	NCBI36
NG_009033.1:g.15096C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378043.9:c.1036C>G (BEST1) MANE Select	ENSP00000367282.4:p.Pro346Ala
ENST00000378043.8:c.1036C>G (BEST1)	ENSP00000367282.4:p.Pro346Ala
ENST00000449131.6:c.856C>G (BEST1)	ENSP00000399709.2:p.Pro286Ala
ENST00000524877.5:n.2667C>G (BEST1)
ENST00000524926.5:c.1239C>G (BEST1)	ENSP00000432681.1:p.Pro413=
ENST00000526988.1:c.921C>G (BEST1)	ENSP00000433195.1:p.Pro307=
ENST00000529191.5:c.115-52G>C (FTH1)	ENSP00000431659.1:n.115-52G>C
ENST00000529631.5:c.115-75G>C (FTH1)	ENSP00000431575.1:n.115-75G>C
ENST00000530019.5:c.262-75G>C (FTH1)	ENSP00000433470.1:n.262-75G>C
ENST00000534553.5:c.164-2276C>G (BEST1)	ENSP00000431189.1:n.164-2276C>G
NM_001139443.1:c.856C>G (BEST1)	NP_001132915.1:p.Pro286Ala
NM_001300786.1:c.775C>G (BEST1)	NP_001287715.1:p.Pro259Ala
NM_001300787.1:c.856C>G (BEST1)	NP_001287716.1:p.Pro286Ala
NM_004183.3:c.1036C>G (BEST1)	NP_004174.1:p.Pro346Ala
XM_005274210.2:c.1036C>G (BEST1)	XP_005274267.1:p.Pro346Ala
XM_005274215.2:c.718C>G (BEST1)	XP_005274272.1:p.Pro240Ala
XM_005274216.2:c.1059C>G (BEST1)	XP_005274273.1:p.Pro353=
XM_005274218.3:c.921C>G (BEST1)	XP_005274275.1:p.Pro307=
XM_005274219.2:c.867+1681C>G (BEST1)	XP_005274276.1:n.867+1681C>G
XM_005274221.2:c.715-2276C>G (BEST1)	XP_005274278.1:n.715-2276C>G
XM_011545229.1:c.1036C>G (BEST1)	XP_011543531.1:p.Pro346Ala
XM_011545230.1:c.943C>G (BEST1)	XP_011543532.1:p.Pro315Ala
XM_011545231.1:c.718C>G (BEST1)	XP_011543533.1:p.Pro240Ala
XM_011545232.1:c.1239C>G (BEST1)	XP_011543534.1:p.Pro413=
XM_011545233.1:c.193C>G (BEST1)	XP_011543535.1:p.Pro65Ala
NM_001363591.1:c.718C>G (BEST1)	NP_001350520.1:p.Pro240Ala
NM_001363592.1:c.1239C>G (BEST1)	NP_001350521.1:p.Pro413=
NM_001363593.1:c.64C>G (BEST1)	NP_001350522.1:p.Pro22Ala
NR_134580.1:n.1819C>G (BEST1)
XM_005274210.4:c.1036C>G (BEST1)	XP_005274267.1:p.Pro346Ala
XM_005274215.4:c.718C>G (BEST1)	XP_005274272.1:p.Pro240Ala
XM_005274216.4:c.1059C>G (BEST1)	XP_005274273.1:p.Pro353=
XM_005274219.4:c.867+1681C>G (BEST1)	XP_005274276.1:n.867+1681C>G
XM_005274221.4:c.715-2276C>G (BEST1)	XP_005274278.1:n.715-2276C>G
XM_011545229.3:c.1036C>G (BEST1)	XP_011543531.1:p.Pro346Ala
XM_011545230.3:c.943C>G (BEST1)	XP_011543532.1:p.Pro315Ala
XM_011545233.3:c.193C>G (BEST1)	XP_011543535.1:p.Pro65Ala
XM_017018230.2:c.921C>G (BEST1)	XP_016873719.1:p.Pro307=
XR_001747952.2:n.1737C>G (BEST1)
XR_001747953.2:n.1557+1681C>G (BEST1)
XR_001747954.2:n.1405-2276C>G (BEST1)
NM_004183.4:c.1036C>G (BEST1) MANE Select	NP_004174.1:p.Pro346Ala
NM_001139443.2:c.856C>G (BEST1)	NP_001132915.1:p.Pro286Ala
NM_001300786.2:c.775C>G (BEST1)	NP_001287715.1:p.Pro259Ala
NM_001300787.2:c.856C>G (BEST1)	NP_001287716.1:p.Pro286Ala
NM_001363591.2:c.718C>G (BEST1)	NP_001350520.1:p.Pro240Ala
NM_001363593.2:c.64C>G (BEST1)	NP_001350522.1:p.Pro22Ala
NR_134580.2:n.1352C>G (BEST1)