Canonical Allele Identifier: CA254672

Gene: BBS4

Linked Data

• ClinVar Variation Id: 9148
• ClinVar RCV Id: RCV000009719 ; RCV003228893
• dbSNP Id: rs28938468
• gnomAD v3: 15-72735167-C-A
• gnomAD v4: 15-72735167-C-A
• MyVariant Identifiers: chr15:g.73027508C>A (hg19) ; chr15:g.72735167C>A (hg38)
• PubMed: PMID:12016587

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72735167C>A , CM000677.2:g.72735167C>A	GRCh38
NC_000015.9:g.73027508C>A , CM000677.1:g.73027508C>A	GRCh37
NC_000015.8:g.70814561C>A	NCBI36
NG_009416.2:g.53983C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268057.9:c.1091C>A MANE Select	ENSP00000268057.4:p.Ala364Glu
ENST00000268057.8:c.1091C>A	ENSP00000268057.4:p.Ala364Glu
ENST00000395205.6:c.575C>A	ENSP00000378631.3:p.Ala192Glu
ENST00000562084.5:c.*1170C>A	ENSP00000454718.1:n.*1170C>A
ENST00000562219.1:n.526C>A
ENST00000566197.1:c.136C>A
ENST00000566400.5:c.*981C>A	ENSP00000456759.1:n.*981C>A
ENST00000567279.5:c.*945C>A	ENSP00000456664.1:n.*945C>A
ENST00000569151.1:n.225C>A
NM_001252678.1:c.575C>A	NP_001239607.1:p.Ala192Glu
NM_033028.4:c.1091C>A	NP_149017.2:p.Ala364Glu
NR_045565.1:n.1198C>A
NR_045566.1:n.1453C>A
XM_006720625.2:c.1022C>A	XP_006720688.1:p.Ala341Glu
XM_011521848.1:c.575C>A	XP_011520150.1:p.Ala192Glu
XM_011521849.1:c.575C>A	XP_011520151.1:p.Ala192Glu
XM_011521850.1:c.575C>A	XP_011520152.1:p.Ala192Glu
XM_011521851.1:c.359C>A	XP_011520153.1:p.Ala120Glu
NM_001320665.1:c.1022C>A	NP_001307594.1:p.Ala341Glu
XM_017022450.1:c.1046C>A	XP_016877939.1:p.Ala349Glu
XM_017022452.1:c.575C>A	XP_016877941.1:p.Ala192Glu
XM_017022453.1:c.575C>A	XP_016877942.1:p.Ala192Glu
XM_017022454.1:c.575C>A	XP_016877943.1:p.Ala192Glu
NM_033028.5:c.1091C>A MANE Select	NP_149017.2:p.Ala364Glu
NM_001252678.2:c.575C>A	NP_001239607.1:p.Ala192Glu
NM_001320665.2:c.1022C>A	NP_001307594.1:p.Ala341Glu
NR_045565.2:n.1170C>A
NR_045566.2:n.1425C>A