Canonical Allele Identifier: CA385722911

Gene: BEST3

Linked Data

• ClinVar Variation Id: 3133741
• ClinVar RCV Id: RCV004429027
• gnomAD v4: 12-69655062-A-C
• MyVariant Identifiers: chr12:g.70048842A>C (hg19) ; chr12:g.69655062A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.69655062A>C , CM000674.2:g.69655062A>C	GRCh38
NC_000012.11:g.70048842A>C , CM000674.1:g.70048842A>C	GRCh37
NC_000012.10:g.68335109A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330891.10:c.1852T>G MANE Select	ENSP00000332413.5:p.Leu618Val
ENST00000330891.9:c.1852T>G	ENSP00000332413.5:p.Leu618Val
ENST00000331471.8:c.1101-11275T>G	ENSP00000329064.4:n.1101-11275T>G
ENST00000488961.5:c.1213T>G	ENSP00000433213.1:p.Leu405Val
ENST00000547208.5:c.*119-11275T>G	ENSP00000449868.1:n.*119-11275T>G
ENST00000553096.5:c.1534T>G	ENSP00000449548.1:p.Leu512Val
NM_001282613.1:c.1534T>G	NP_001269542.1:p.Leu512Val
NM_001282614.1:c.1101-11275T>G	NP_001269543.1:n.1101-11275T>G
NM_032735.2:c.1852T>G	NP_116124.2:p.Leu618Val
NM_152439.3:c.1213T>G	NP_689652.2:p.Leu405Val
XM_006719252.2:c.1618T>G	XP_006719315.1:p.Leu540Val
XM_011537961.1:c.1534T>G	XP_011536263.1:p.Leu512Val
XM_011537962.1:c.1366T>G	XP_011536264.1:p.Leu456Val
XM_011537963.1:c.1366T>G	XP_011536265.1:p.Leu456Val
XM_011537964.1:c.1366T>G	XP_011536266.1:p.Leu456Val
XM_011537965.1:c.880T>G	XP_011536267.1:p.Leu294Val
XM_011537962.2:c.1366T>G	XP_011536264.1:p.Leu456Val
XM_011537965.2:c.880T>G	XP_011536267.1:p.Leu294Val
XM_024448853.1:c.1852T>G	XP_024304621.1:p.Leu618Val
XM_024448854.1:c.1534T>G	XP_024304622.1:p.Leu512Val
XM_024448855.1:c.1366T>G	XP_024304623.1:p.Leu456Val
XM_024448856.1:c.1366T>G	XP_024304624.1:p.Leu456Val
XR_001749451.1:n.346+16048A>C
XR_945062.2:n.346+16048A>C
NM_032735.3:c.1852T>G MANE Select	NP_116124.2:p.Leu618Val
NM_001282613.2:c.1534T>G	NP_001269542.1:p.Leu512Val
NM_001282614.2:c.1101-11275T>G	NP_001269543.1:n.1101-11275T>G
NM_152439.4:c.1213T>G	NP_689652.2:p.Leu405Val