Canonical Allele Identifier: CA10638853

Gene: BEST1

Linked Data

• ClinVar Variation Id: 305111
• ClinVar RCV Id: RCV000291450 ; RCV000339384 ; RCV000400786
• dbSNP Id: rs117165769
• gnomAD v2: 11-61717563-T-A
• gnomAD v3: 11-61950091-T-A
• gnomAD v4: 11-61950091-T-A
• MyVariant Identifiers: chr11:g.61717563T>A (hg19) ; chr11:g.61950091T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61950091T>A , CM000673.2:g.61950091T>A	GRCh38
NC_000011.9:g.61717563T>A , CM000673.1:g.61717563T>A	GRCh37
NC_000011.8:g.61474139T>A	NCBI36
NG_009033.1:g.5208T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378043.8:c.-373T>A	ENSP00000367282.4:n.-373T>A
ENST00000534553.5:c.-548T>A	ENSP00000431189.1:n.-548T>A
NM_001139443.1:c.-365T>A	NP_001132915.1:n.-365T>A
NM_001300786.1:c.-365T>A	NP_001287715.1:n.-365T>A
NM_001300787.1:c.-365T>A	NP_001287716.1:n.-365T>A
NM_004183.3:c.-373T>A	NP_004174.1:n.-373T>A
XM_005274210.2:c.-373T>A	XP_005274267.1:n.-373T>A
XM_005274216.2:c.-365T>A	XP_005274273.1:n.-365T>A
XM_005274218.3:c.-548T>A	XP_005274275.1:n.-548T>A
XM_005274219.2:c.-373T>A	XP_005274276.1:n.-373T>A
XM_005274221.2:c.-373T>A	XP_005274278.1:n.-373T>A
XM_011545229.1:c.-36-1680T>A	XP_011543531.1:n.-36-1680T>A
XM_011545230.1:c.59+3276T>A	XP_011543532.1:n.59+3276T>A
XM_011545231.1:c.-548T>A	XP_011543533.1:n.-548T>A
XM_011545232.1:c.-373T>A	XP_011543534.1:n.-373T>A
NM_001363592.1:c.-373T>A	NP_001350521.1:n.-373T>A
NR_134580.1:n.208T>A
XM_005274210.4:c.-373T>A	XP_005274267.1:n.-373T>A
XM_005274216.4:c.-365T>A	XP_005274273.1:n.-365T>A
XM_005274219.4:c.-373T>A	XP_005274276.1:n.-373T>A
XM_005274221.4:c.-373T>A	XP_005274278.1:n.-373T>A
XM_011545229.3:c.-36-1680T>A	XP_011543531.1:n.-36-1680T>A
XM_011545230.3:c.59+3276T>A	XP_011543532.1:n.59+3276T>A
XR_001747952.2:n.314T>A
XR_001747953.2:n.318T>A
XR_001747954.2:n.318T>A