Canonical Allele Identifier: CA10635119

Gene: BEST1

Linked Data

• ClinVar Variation Id: 305113
• ClinVar RCV Id: RCV000298197 ; RCV000355356 ; RCV000392227 ; RCV001690012
• dbSNP Id: rs972353
• gnomAD v2: 11-61717715-T-C
• gnomAD v3: 11-61950243-T-C
• gnomAD v4: 11-61950243-T-C
• MyVariant Identifiers: chr11:g.61717715T>C (hg19) ; chr11:g.61950243T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61950243T>C , CM000673.2:g.61950243T>C	GRCh38
NC_000011.9:g.61717715T>C , CM000673.1:g.61717715T>C	GRCh37
NC_000011.8:g.61474291T>C	NCBI36
NG_009033.1:g.5360T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378043.8:c.-221T>C	ENSP00000367282.4:n.-221T>C
ENST00000534553.5:c.-396T>C	ENSP00000431189.1:n.-396T>C
NM_001139443.1:c.-213T>C	NP_001132915.1:n.-213T>C
NM_001300786.1:c.-213T>C	NP_001287715.1:n.-213T>C
NM_001300787.1:c.-213T>C	NP_001287716.1:n.-213T>C
NM_004183.3:c.-221T>C	NP_004174.1:n.-221T>C
XM_005274210.2:c.-221T>C	XP_005274267.1:n.-221T>C
XM_005274216.2:c.-213T>C	XP_005274273.1:n.-213T>C
XM_005274218.3:c.-396T>C	XP_005274275.1:n.-396T>C
XM_005274219.2:c.-221T>C	XP_005274276.1:n.-221T>C
XM_005274221.2:c.-221T>C	XP_005274278.1:n.-221T>C
XM_011545229.1:c.-36-1528T>C	XP_011543531.1:n.-36-1528T>C
XM_011545230.1:c.59+3428T>C	XP_011543532.1:n.59+3428T>C
XM_011545231.1:c.-396T>C	XP_011543533.1:n.-396T>C
XM_011545232.1:c.-221T>C	XP_011543534.1:n.-221T>C
NM_001363592.1:c.-221T>C	NP_001350521.1:n.-221T>C
NR_134580.1:n.360T>C
XM_005274210.4:c.-221T>C	XP_005274267.1:n.-221T>C
XM_005274216.4:c.-213T>C	XP_005274273.1:n.-213T>C
XM_005274219.4:c.-221T>C	XP_005274276.1:n.-221T>C
XM_005274221.4:c.-221T>C	XP_005274278.1:n.-221T>C
XM_011545229.3:c.-36-1528T>C	XP_011543531.1:n.-36-1528T>C
XM_011545230.3:c.59+3428T>C	XP_011543532.1:n.59+3428T>C
XR_001747952.2:n.466T>C
XR_001747953.2:n.470T>C
XR_001747954.2:n.470T>C