Canonical Allele Identifier: CA10639482

Gene: BEST1

Linked Data

• ClinVar Variation Id: 305114
• ClinVar RCV Id: RCV000262982 ; RCV000329855 ; RCV000367924
• dbSNP Id: rs886048424
• gnomAD v3: 11-61950339-G-A
• gnomAD v4: 11-61950339-G-A
• MyVariant Identifiers: chr11:g.61717811G>A (hg19) ; chr11:g.61950339G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61950339G>A , CM000673.2:g.61950339G>A	GRCh38
NC_000011.9:g.61717811G>A , CM000673.1:g.61717811G>A	GRCh37
NC_000011.8:g.61474387G>A	NCBI36
NG_009033.1:g.5456G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378043.8:c.-125G>A	ENSP00000367282.4:n.-125G>A
ENST00000534553.5:c.-300G>A	ENSP00000431189.1:n.-300G>A
NM_001139443.1:c.-117G>A	NP_001132915.1:n.-117G>A
NM_001300786.1:c.-117G>A	NP_001287715.1:n.-117G>A
NM_001300787.1:c.-117G>A	NP_001287716.1:n.-117G>A
NM_004183.3:c.-125G>A	NP_004174.1:n.-125G>A
XM_005274210.2:c.-125G>A	XP_005274267.1:n.-125G>A
XM_005274216.2:c.-117G>A	XP_005274273.1:n.-117G>A
XM_005274218.3:c.-300G>A	XP_005274275.1:n.-300G>A
XM_005274219.2:c.-125G>A	XP_005274276.1:n.-125G>A
XM_005274221.2:c.-125G>A	XP_005274278.1:n.-125G>A
XM_011545229.1:c.-36-1432G>A	XP_011543531.1:n.-36-1432G>A
XM_011545230.1:c.59+3524G>A	XP_011543532.1:n.59+3524G>A
XM_011545231.1:c.-300G>A	XP_011543533.1:n.-300G>A
XM_011545232.1:c.-125G>A	XP_011543534.1:n.-125G>A
NM_001363592.1:c.-125G>A	NP_001350521.1:n.-125G>A
NR_134580.1:n.456G>A
XM_005274210.4:c.-125G>A	XP_005274267.1:n.-125G>A
XM_005274216.4:c.-117G>A	XP_005274273.1:n.-117G>A
XM_005274219.4:c.-125G>A	XP_005274276.1:n.-125G>A
XM_005274221.4:c.-125G>A	XP_005274278.1:n.-125G>A
XM_011545229.3:c.-36-1432G>A	XP_011543531.1:n.-36-1432G>A
XM_011545230.3:c.59+3524G>A	XP_011543532.1:n.59+3524G>A
XR_001747952.2:n.562G>A
XR_001747953.2:n.566G>A
XR_001747954.2:n.566G>A