Canonical Allele Identifier: CA380845943

Gene: BEST1 FTH1

Linked Data

• dbSNP Id: rs1382855318
• gnomAD v2: 11-61727351-C-G
• gnomAD v4: 11-61959879-C-G
• MyVariant Identifiers: chr11:g.61727351C>G (hg19) ; chr11:g.61959879C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61959879C>G , CM000673.2:g.61959879C>G	GRCh38
NC_000011.9:g.61727351C>G , CM000673.1:g.61727351C>G	GRCh37
NC_000011.8:g.61483927C>G	NCBI36
NG_009033.1:g.14996C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378043.9:c.949-13C>G (BEST1) MANE Select	ENSP00000367282.4:n.949-13C>G
ENST00000378043.8:c.949-13C>G (BEST1)	ENSP00000367282.4:n.949-13C>G
ENST00000449131.6:c.769-13C>G (BEST1)	ENSP00000399709.2:n.769-13C>G
ENST00000524877.5:n.2580-13C>G (BEST1)
ENST00000524926.5:c.1152-13C>G (BEST1)	ENSP00000432681.1:n.1152-13C>G
ENST00000526988.1:c.834-13C>G (BEST1)	ENSP00000433195.1:n.834-13C>G
ENST00000529191.5:c.163G>C (FTH1)	ENSP00000431659.1:p.Asp55His
ENST00000529631.5:c.140G>C (FTH1)	ENSP00000431575.1:p.Gly47Ala
ENST00000530019.5:c.287G>C (FTH1)	ENSP00000433470.1:p.Gly96Ala
ENST00000534553.5:c.164-2376C>G (BEST1)	ENSP00000431189.1:n.164-2376C>G
NM_001139443.1:c.769-13C>G (BEST1)	NP_001132915.1:n.769-13C>G
NM_001300786.1:c.688-13C>G (BEST1)	NP_001287715.1:n.688-13C>G
NM_001300787.1:c.769-13C>G (BEST1)	NP_001287716.1:n.769-13C>G
NM_004183.3:c.949-13C>G (BEST1)	NP_004174.1:n.949-13C>G
XM_005274210.2:c.949-13C>G (BEST1)	XP_005274267.1:n.949-13C>G
XM_005274215.2:c.631-13C>G (BEST1)	XP_005274272.1:n.631-13C>G
XM_005274216.2:c.972-13C>G (BEST1)	XP_005274273.1:n.972-13C>G
XM_005274218.3:c.834-13C>G (BEST1)	XP_005274275.1:n.834-13C>G
XM_005274219.2:c.867+1581C>G (BEST1)	XP_005274276.1:n.867+1581C>G
XM_005274221.2:c.715-2376C>G (BEST1)	XP_005274278.1:n.715-2376C>G
XM_011545229.1:c.949-13C>G (BEST1)	XP_011543531.1:n.949-13C>G
XM_011545230.1:c.856-13C>G (BEST1)	XP_011543532.1:n.856-13C>G
XM_011545231.1:c.631-13C>G (BEST1)	XP_011543533.1:n.631-13C>G
XM_011545232.1:c.1152-13C>G (BEST1)	XP_011543534.1:n.1152-13C>G
XM_011545233.1:c.106-13C>G (BEST1)	XP_011543535.1:n.106-13C>G
NM_001363591.1:c.631-13C>G (BEST1)	NP_001350520.1:n.631-13C>G
NM_001363592.1:c.1152-13C>G (BEST1)	NP_001350521.1:n.1152-13C>G
NM_001363593.1:c.-24-13C>G (BEST1)	NP_001350522.1:n.-24-13C>G
NR_134580.1:n.1732-13C>G (BEST1)
XM_005274210.4:c.949-13C>G (BEST1)	XP_005274267.1:n.949-13C>G
XM_005274215.4:c.631-13C>G (BEST1)	XP_005274272.1:n.631-13C>G
XM_005274216.4:c.972-13C>G (BEST1)	XP_005274273.1:n.972-13C>G
XM_005274219.4:c.867+1581C>G (BEST1)	XP_005274276.1:n.867+1581C>G
XM_005274221.4:c.715-2376C>G (BEST1)	XP_005274278.1:n.715-2376C>G
XM_011545229.3:c.949-13C>G (BEST1)	XP_011543531.1:n.949-13C>G
XM_011545230.3:c.856-13C>G (BEST1)	XP_011543532.1:n.856-13C>G
XM_011545233.3:c.106-13C>G (BEST1)	XP_011543535.1:n.106-13C>G
XM_017018230.2:c.834-13C>G (BEST1)	XP_016873719.1:n.834-13C>G
XR_001747952.2:n.1650-13C>G (BEST1)
XR_001747953.2:n.1557+1581C>G (BEST1)
XR_001747954.2:n.1405-2376C>G (BEST1)
XR_001748245.1:n.49G>C
XR_002957249.1:n.49G>C
NM_004183.4:c.949-13C>G (BEST1) MANE Select	NP_004174.1:n.949-13C>G
NM_001139443.2:c.769-13C>G (BEST1)	NP_001132915.1:n.769-13C>G
NM_001300786.2:c.688-13C>G (BEST1)	NP_001287715.1:n.688-13C>G
NM_001300787.2:c.769-13C>G (BEST1)	NP_001287716.1:n.769-13C>G
NM_001363591.2:c.631-13C>G (BEST1)	NP_001350520.1:n.631-13C>G
NM_001363593.2:c.-24-13C>G (BEST1)	NP_001350522.1:n.-24-13C>G
NR_134580.2:n.1265-13C>G (BEST1)