Canonical Allele Identifier: CA7646985

Gene: BBS4

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72736800G>T , CM000677.2:g.72736800G>T	GRCh38
NC_000015.9:g.73029141G>T , CM000677.1:g.73029141G>T	GRCh37
NC_000015.8:g.70816194G>T	NCBI36
NG_009416.2:g.55616G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_033028.5:c.1287G>T MANE Select	NP_149017.2:p.Gln429His
ENST00000268057.9:c.1287G>T MANE Select	ENSP00000268057.4:p.Gln429His
NM_001252678.1:c.771G>T	NP_001239607.1:p.Gln257His
NM_001252678.2:c.771G>T	NP_001239607.1:p.Gln257His
NM_001320665.1:c.1218G>T	NP_001307594.1:p.Gln406His
NM_001320665.2:c.1218G>T	NP_001307594.1:p.Gln406His
NM_033028.4:c.1287G>T	NP_149017.2:p.Gln429His
NR_045565.1:n.1394G>T
NR_045565.2:n.1366G>T
NR_045566.1:n.1649G>T
NR_045566.2:n.1621G>T
ENST00000268057.8:c.1287G>T	ENSP00000268057.4:p.Gln429His
ENST00000395205.6:c.771G>T	ENSP00000378631.3:p.Gln257His
ENST00000562084.5:c.*1366G>T	ENSP00000454718.1:n.*1366G>T
ENST00000566197.1:c.332G>T
ENST00000566400.5:c.*1177G>T	ENSP00000456759.1:n.*1177G>T
ENST00000567279.5:c.*1141G>T	ENSP00000456664.1:n.*1141G>T
ENST00000568535.1:n.489G>T
XM_006720625.2:c.1218G>T	XP_006720688.1:p.Gln406His
XM_011521848.1:c.771G>T	XP_011520150.1:p.Gln257His
XM_011521849.1:c.771G>T	XP_011520151.1:p.Gln257His
XM_011521850.1:c.771G>T	XP_011520152.1:p.Gln257His
XM_011521851.1:c.555G>T	XP_011520153.1:p.Gln185His
XM_017022450.1:c.1242G>T	XP_016877939.1:p.Gln414His
XM_017022452.1:c.771G>T	XP_016877941.1:p.Gln257His
XM_017022453.1:c.771G>T	XP_016877942.1:p.Gln257His
XM_017022454.1:c.771G>T	XP_016877943.1:p.Gln257His