Canonical Allele Identifier: CA16614490

Gene: BBS4

Linked Data

• ClinVar Variation Id: 412296
• ClinVar RCV Id: RCV000469982
• dbSNP Id: rs367882912
• MyVariant Identifiers: chr15:g.73016922T>A (hg19) ; chr15:g.72724581T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72724581T>A , CM000677.2:g.72724581T>A	GRCh38
NC_000015.9:g.73016922T>A , CM000677.1:g.73016922T>A	GRCh37
NC_000015.8:g.70803975T>A	NCBI36
NG_009416.2:g.43397T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268057.9:c.513T>A MANE Select	ENSP00000268057.4:p.Tyr171Ter
ENST00000268057.8:c.513T>A	ENSP00000268057.4:p.Tyr171Ter
ENST00000395205.6:c.-4T>A	ENSP00000378631.3:n.-4T>A
ENST00000561914.5:c.*89T>A	ENSP00000457795.1:n.*89T>A
ENST00000562084.5:c.*592T>A	ENSP00000454718.1:n.*592T>A
ENST00000562219.1:n.72T>A
ENST00000565160.5:c.*89T>A	ENSP00000455412.1:n.*89T>A
ENST00000566400.5:c.*403T>A	ENSP00000456759.1:n.*403T>A
ENST00000566938.5:c.*403T>A	ENSP00000456463.1:n.*403T>A
ENST00000567279.5:c.*367T>A	ENSP00000456664.1:n.*367T>A
ENST00000569338.5:c.504T>A	ENSP00000456758.1:p.Tyr168Ter
NM_001252678.1:c.-4T>A	NP_001239607.1:n.-4T>A
NM_033028.4:c.513T>A	NP_149017.2:p.Tyr171Ter
NR_045565.1:n.620T>A
NR_045566.1:n.875T>A
XM_006720625.2:c.513T>A	XP_006720688.1:p.Tyr171Ter
XM_011521848.1:c.-4T>A	XP_011520150.1:n.-4T>A
XM_011521849.1:c.-4T>A	XP_011520151.1:n.-4T>A
XM_011521850.1:c.-4T>A	XP_011520152.1:n.-4T>A
XM_011521851.1:c.-96T>A	XP_011520153.1:n.-96T>A
NM_001320665.1:c.513T>A	NP_001307594.1:p.Tyr171Ter
XM_017022450.1:c.537T>A	XP_016877939.1:p.Tyr179Ter
XM_017022452.1:c.-4T>A	XP_016877941.1:n.-4T>A
XM_017022453.1:c.-4T>A	XP_016877942.1:n.-4T>A
XM_017022454.1:c.-4T>A	XP_016877943.1:n.-4T>A
NM_033028.5:c.513T>A MANE Select	NP_149017.2:p.Tyr171Ter
NM_001252678.2:c.-4T>A	NP_001239607.1:n.-4T>A
NM_001320665.2:c.513T>A	NP_001307594.1:p.Tyr171Ter
NR_045565.2:n.592T>A
NR_045566.2:n.847T>A