Canonical Allele Identifier: CA491124263

Gene: BBS4

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72712276G>A , CM000677.2:g.72712276G>A	GRCh38
NC_000015.9:g.73004617G>A , CM000677.1:g.73004617G>A	GRCh37
NC_000015.8:g.70791670G>A	NCBI36
NG_009416.2:g.31092G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268057.9:c.189G>A MANE Select	ENSP00000268057.4:p.Gln63=
ENST00000268057.8:c.189G>A	ENSP00000268057.4:p.Gln63=
ENST00000395205.6:c.-333G>A	ENSP00000378631.3:n.-333G>A
ENST00000561914.5:c.189G>A	ENSP00000457795.1:p.Gln63=
ENST00000562084.5:c.*268G>A	ENSP00000454718.1:n.*268G>A
ENST00000563600.5:c.*139G>A	ENSP00000457753.1:n.*139G>A
ENST00000564239.1:n.256G>A
ENST00000565160.5:c.189G>A	ENSP00000455412.1:p.Gln63=
ENST00000566400.5:c.*74G>A	ENSP00000456759.1:n.*74G>A
ENST00000566829.1:c.207G>A	ENSP00000455958.1:p.Gln69=
ENST00000566938.5:c.*74G>A	ENSP00000456463.1:n.*74G>A
ENST00000567279.5:c.*43G>A	ENSP00000456664.1:n.*43G>A
ENST00000569338.5:c.180G>A	ENSP00000456758.1:p.Gln60=
ENST00000569440.5:c.*133G>A	ENSP00000457958.1:n.*133G>A
NM_001252678.1:c.-333G>A	NP_001239607.1:n.-333G>A
NM_033028.4:c.189G>A	NP_149017.2:p.Gln63=
NR_045565.1:n.296G>A
NR_045566.1:n.551G>A
XM_006720625.2:c.189G>A	XP_006720688.1:p.Gln63=
XM_011521848.1:c.-333G>A	XP_011520150.1:n.-333G>A
XM_011521849.1:c.-216G>A	XP_011520151.1:n.-216G>A
XM_011521850.1:c.-221G>A	XP_011520152.1:n.-221G>A
XM_011521851.1:c.-425G>A	XP_011520153.1:n.-425G>A
NM_001320665.1:c.189G>A	NP_001307594.1:p.Gln63=
XM_017022450.1:c.213G>A	XP_016877939.1:p.Gln71=
XM_017022452.1:c.-216G>A	XP_016877941.1:n.-216G>A
XM_017022453.1:c.-221G>A	XP_016877942.1:n.-221G>A
XM_017022454.1:c.-221G>A	XP_016877943.1:n.-221G>A
NM_033028.5:c.189G>A MANE Select	NP_149017.2:p.Gln63=
NM_001252678.2:c.-333G>A	NP_001239607.1:n.-333G>A
NM_001320665.2:c.189G>A	NP_001307594.1:p.Gln63=
NR_045565.2:n.268G>A
NR_045566.2:n.523G>A