Canonical Allele Identifier: CA7647054

Gene: BBS4

Linked Data

• ClinVar Variation Id: 462959
• ClinVar RCV Id: RCV000537692 ; RCV002060311
• dbSNP Id: rs561284402
• ExAC: 15:73029831 C / A
• gnomAD v2: 15-73029831-C-A
• gnomAD v3: 15-72737490-C-A
• gnomAD v4: 15-72737490-C-A
• MyVariant Identifiers: chr15:g.73029831C>A (hg19) ; chr15:g.72737490C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72737490C>A , CM000677.2:g.72737490C>A	GRCh38
NC_000015.9:g.73029831C>A , CM000677.1:g.73029831C>A	GRCh37
NC_000015.8:g.70816884C>A	NCBI36
NG_009416.2:g.56306C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268057.9:c.1463C>A MANE Select	ENSP00000268057.4:p.Thr488Lys
ENST00000268057.8:c.1463C>A	ENSP00000268057.4:p.Thr488Lys
ENST00000395205.6:c.947C>A	ENSP00000378631.3:p.Thr316Lys
ENST00000562084.5:c.*1542C>A	ENSP00000454718.1:n.*1542C>A
ENST00000566197.1:c.508C>A
ENST00000566400.5:c.*1353C>A	ENSP00000456759.1:n.*1353C>A
ENST00000567279.5:c.*1317C>A	ENSP00000456664.1:n.*1317C>A
NM_001252678.1:c.947C>A	NP_001239607.1:p.Thr316Lys
NM_033028.4:c.1463C>A	NP_149017.2:p.Thr488Lys
NR_045565.1:n.1570C>A
NR_045566.1:n.1825C>A
XM_006720625.2:c.1394C>A	XP_006720688.1:p.Thr465Lys
XM_011521848.1:c.947C>A	XP_011520150.1:p.Thr316Lys
XM_011521849.1:c.947C>A	XP_011520151.1:p.Thr316Lys
XM_011521850.1:c.947C>A	XP_011520152.1:p.Thr316Lys
XM_011521851.1:c.731C>A	XP_011520153.1:p.Thr244Lys
NM_001320665.1:c.1394C>A	NP_001307594.1:p.Thr465Lys
XM_017022450.1:c.1418C>A	XP_016877939.1:p.Thr473Lys
XM_017022452.1:c.947C>A	XP_016877941.1:p.Thr316Lys
XM_017022453.1:c.947C>A	XP_016877942.1:p.Thr316Lys
XM_017022454.1:c.947C>A	XP_016877943.1:p.Thr316Lys
NM_033028.5:c.1463C>A MANE Select	NP_149017.2:p.Thr488Lys
NM_001252678.2:c.947C>A	NP_001239607.1:p.Thr316Lys
NM_001320665.2:c.1394C>A	NP_001307594.1:p.Thr465Lys
NR_045565.2:n.1542C>A
NR_045566.2:n.1797C>A