Canonical Allele Identifier: CA393078932

Gene: BBS4

Linked Data

• ClinVar Variation Id: 531832
• ClinVar RCV Id: RCV000638368 ; RCV003420115 ; RCV003459527
• dbSNP Id: rs770891152
• gnomAD v4: 15-72731650-T-A
• MyVariant Identifiers: chr15:g.73023991T>A (hg19) ; chr15:g.72731650T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72731650T>A , CM000677.2:g.72731650T>A	GRCh38
NC_000015.9:g.73023991T>A , CM000677.1:g.73023991T>A	GRCh37
NC_000015.8:g.70811044T>A	NCBI36
NG_009416.2:g.50466T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268057.9:c.960T>A MANE Select	ENSP00000268057.4:p.Tyr320Ter
ENST00000268057.8:c.960T>A	ENSP00000268057.4:p.Tyr320Ter
ENST00000395205.6:c.444T>A	ENSP00000378631.3:p.Tyr148Ter
ENST00000562084.5:c.*1039T>A	ENSP00000454718.1:n.*1039T>A
ENST00000562219.1:n.395T>A
ENST00000566400.5:c.*850T>A	ENSP00000456759.1:n.*850T>A
ENST00000567279.5:c.*814T>A	ENSP00000456664.1:n.*814T>A
ENST00000569151.1:n.94T>A
NM_001252678.1:c.444T>A	NP_001239607.1:p.Tyr148Ter
NM_033028.4:c.960T>A	NP_149017.2:p.Tyr320Ter
NR_045565.1:n.1067T>A
NR_045566.1:n.1322T>A
XM_006720625.2:c.891T>A	XP_006720688.1:p.Tyr297Ter
XM_011521848.1:c.444T>A	XP_011520150.1:p.Tyr148Ter
XM_011521849.1:c.444T>A	XP_011520151.1:p.Tyr148Ter
XM_011521850.1:c.444T>A	XP_011520152.1:p.Tyr148Ter
XM_011521851.1:c.228T>A	XP_011520153.1:p.Tyr76Ter
NM_001320665.1:c.891T>A	NP_001307594.1:p.Tyr297Ter
XM_017022450.1:c.915T>A	XP_016877939.1:p.Tyr305Ter
XM_017022452.1:c.444T>A	XP_016877941.1:p.Tyr148Ter
XM_017022453.1:c.444T>A	XP_016877942.1:p.Tyr148Ter
XM_017022454.1:c.444T>A	XP_016877943.1:p.Tyr148Ter
NM_033028.5:c.960T>A MANE Select	NP_149017.2:p.Tyr320Ter
NM_001252678.2:c.444T>A	NP_001239607.1:p.Tyr148Ter
NM_001320665.2:c.891T>A	NP_001307594.1:p.Tyr297Ter
NR_045565.2:n.1039T>A
NR_045566.2:n.1294T>A