Canonical Allele Identifier: CA7646915

Gene: BBS4

Linked Data

• ClinVar Variation Id: 317062
• ClinVar RCV Id: RCV000392838 ; RCV000415761 ; RCV001437125
• dbSNP Id: rs766664389
• ExAC: 15:73028159 G / A
• gnomAD v2: 15-73028159-G-A
• gnomAD v3: 15-72735818-G-A
• gnomAD v4: 15-72735818-G-A
• MyVariant Identifiers: chr15:g.73028159G>A (hg19) ; chr15:g.72735818G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72735818G>A , CM000677.2:g.72735818G>A	GRCh38
NC_000015.9:g.73028159G>A , CM000677.1:g.73028159G>A	GRCh37
NC_000015.8:g.70815212G>A	NCBI36
NG_009416.2:g.54634G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268057.9:c.1107-7G>A MANE Select	ENSP00000268057.4:n.1107-7G>A
ENST00000268057.8:c.1107-7G>A	ENSP00000268057.4:n.1107-7G>A
ENST00000395205.6:c.591-7G>A	ENSP00000378631.3:n.591-7G>A
ENST00000562084.5:c.*1186-7G>A	ENSP00000454718.1:n.*1186-7G>A
ENST00000566197.1:c.152-7G>A
ENST00000566400.5:c.*997-7G>A	ENSP00000456759.1:n.*997-7G>A
ENST00000567279.5:c.*961-7G>A	ENSP00000456664.1:n.*961-7G>A
ENST00000568535.1:n.302G>A
NM_001252678.1:c.591-7G>A	NP_001239607.1:n.591-7G>A
NM_033028.4:c.1107-7G>A	NP_149017.2:n.1107-7G>A
NR_045565.1:n.1214-7G>A
NR_045566.1:n.1469-7G>A
XM_006720625.2:c.1038-7G>A	XP_006720688.1:n.1038-7G>A
XM_011521848.1:c.591-7G>A	XP_011520150.1:n.591-7G>A
XM_011521849.1:c.591-7G>A	XP_011520151.1:n.591-7G>A
XM_011521850.1:c.591-7G>A	XP_011520152.1:n.591-7G>A
XM_011521851.1:c.375-7G>A	XP_011520153.1:n.375-7G>A
NM_001320665.1:c.1038-7G>A	NP_001307594.1:n.1038-7G>A
XM_017022450.1:c.1062-7G>A	XP_016877939.1:n.1062-7G>A
XM_017022452.1:c.591-7G>A	XP_016877941.1:n.591-7G>A
XM_017022453.1:c.591-7G>A	XP_016877942.1:n.591-7G>A
XM_017022454.1:c.591-7G>A	XP_016877943.1:n.591-7G>A
NM_033028.5:c.1107-7G>A MANE Select	NP_149017.2:n.1107-7G>A
NM_001252678.2:c.591-7G>A	NP_001239607.1:n.591-7G>A
NM_001320665.2:c.1038-7G>A	NP_001307594.1:n.1038-7G>A
NR_045565.2:n.1186-7G>A
NR_045566.2:n.1441-7G>A