Canonical Allele Identifier: CA7646538

Gene: BBS4

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72712301G>A , CM000677.2:g.72712301G>A	GRCh38
NC_000015.9:g.73004642G>A , CM000677.1:g.73004642G>A	GRCh37
NC_000015.8:g.70791695G>A	NCBI36
NG_009416.2:g.31117G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268057.9:c.214G>A MANE Select	ENSP00000268057.4:p.Val72Ile
ENST00000268057.8:c.214G>A	ENSP00000268057.4:p.Val72Ile
ENST00000395205.6:c.-308G>A	ENSP00000378631.3:n.-308G>A
ENST00000561914.5:c.214G>A	ENSP00000457795.1:p.Val72Ile
ENST00000562084.5:c.*293G>A	ENSP00000454718.1:n.*293G>A
ENST00000563600.5:c.*164G>A	ENSP00000457753.1:n.*164G>A
ENST00000564239.1:n.281G>A
ENST00000565160.5:c.214G>A	ENSP00000455412.1:p.Val72Ile
ENST00000566400.5:c.*99G>A	ENSP00000456759.1:n.*99G>A
ENST00000566829.1:c.232G>A	ENSP00000455958.1:p.Val78Ile
ENST00000566938.5:c.*99G>A	ENSP00000456463.1:n.*99G>A
ENST00000567279.5:c.*68G>A	ENSP00000456664.1:n.*68G>A
ENST00000569338.5:c.205G>A	ENSP00000456758.1:p.Val69Ile
ENST00000569440.5:c.*158G>A	ENSP00000457958.1:n.*158G>A
NM_001252678.1:c.-308G>A	NP_001239607.1:n.-308G>A
NM_033028.4:c.214G>A	NP_149017.2:p.Val72Ile
NR_045565.1:n.321G>A
NR_045566.1:n.576G>A
XM_006720625.2:c.214G>A	XP_006720688.1:p.Val72Ile
XM_011521848.1:c.-308G>A	XP_011520150.1:n.-308G>A
XM_011521849.1:c.-191G>A	XP_011520151.1:n.-191G>A
XM_011521850.1:c.-196G>A	XP_011520152.1:n.-196G>A
XM_011521851.1:c.-400G>A	XP_011520153.1:n.-400G>A
NM_001320665.1:c.214G>A	NP_001307594.1:p.Val72Ile
XM_017022450.1:c.238G>A	XP_016877939.1:p.Val80Ile
XM_017022452.1:c.-191G>A	XP_016877941.1:n.-191G>A
XM_017022453.1:c.-196G>A	XP_016877942.1:n.-196G>A
XM_017022454.1:c.-196G>A	XP_016877943.1:n.-196G>A
NM_033028.5:c.214G>A MANE Select	NP_149017.2:p.Val72Ile
NM_001252678.2:c.-308G>A	NP_001239607.1:n.-308G>A
NM_001320665.2:c.214G>A	NP_001307594.1:p.Val72Ile
NR_045565.2:n.293G>A
NR_045566.2:n.548G>A