Canonical Allele Identifier: CA7646509

Gene: BBS4

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72709776C>T , CM000677.2:g.72709776C>T	GRCh38
NC_000015.9:g.73002117C>T , CM000677.1:g.73002117C>T	GRCh37
NC_000015.8:g.70789170C>T	NCBI36
NG_009416.2:g.28592C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268057.9:c.153C>T MANE Select	ENSP00000268057.4:p.Cys51=
ENST00000268057.8:c.153C>T	ENSP00000268057.4:p.Cys51=
ENST00000395205.6:c.-369C>T	ENSP00000378631.3:n.-369C>T
ENST00000561914.5:c.153C>T	ENSP00000457795.1:p.Cys51=
ENST00000562084.5:c.*232C>T	ENSP00000454718.1:n.*232C>T
ENST00000563600.5:c.*103C>T	ENSP00000457753.1:n.*103C>T
ENST00000564239.1:n.220C>T
ENST00000565160.5:c.153C>T	ENSP00000455412.1:p.Cys51=
ENST00000566400.5:c.*38C>T	ENSP00000456759.1:n.*38C>T
ENST00000566829.1:c.171C>T	ENSP00000455958.1:p.Cys57=
ENST00000566938.5:c.*38C>T	ENSP00000456463.1:n.*38C>T
ENST00000567279.5:c.*7C>T	ENSP00000456664.1:n.*7C>T
ENST00000569338.5:c.144C>T	ENSP00000456758.1:p.Cys48=
ENST00000569440.5:c.*97C>T	ENSP00000457958.1:n.*97C>T
NM_001252678.1:c.-369C>T	NP_001239607.1:n.-369C>T
NM_033028.4:c.153C>T	NP_149017.2:p.Cys51=
NR_045565.1:n.260C>T
NR_045566.1:n.515C>T
XM_006720625.2:c.153C>T	XP_006720688.1:p.Cys51=
XM_011521848.1:c.-369C>T	XP_011520150.1:n.-369C>T
XM_011521849.1:c.-252C>T	XP_011520151.1:n.-252C>T
XM_011521851.1:c.-461C>T	XP_011520153.1:n.-461C>T
NM_001320665.1:c.153C>T	NP_001307594.1:p.Cys51=
XM_017022450.1:c.177C>T	XP_016877939.1:p.Cys59=
XM_017022452.1:c.-252C>T	XP_016877941.1:n.-252C>T
XM_017022453.1:c.-257C>T	XP_016877942.1:n.-257C>T
XM_017022454.1:c.-257C>T	XP_016877943.1:n.-257C>T
NM_033028.5:c.153C>T MANE Select	NP_149017.2:p.Cys51=
NM_001252678.2:c.-369C>T	NP_001239607.1:n.-369C>T
NM_001320665.2:c.153C>T	NP_001307594.1:p.Cys51=
NR_045565.2:n.232C>T
NR_045566.2:n.487C>T