Canonical Allele Identifier: CA233515

Gene: BBS4

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72695216C>T , CM000677.2:g.72695216C>T	GRCh38
NC_000015.9:g.72987557C>T , CM000677.1:g.72987557C>T	GRCh37
NC_000015.8:g.70774610C>T	NCBI36
NG_009416.2:g.14032C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268057.9:c.64C>T MANE Select	ENSP00000268057.4:p.Arg22Trp
ENST00000268057.8:c.64C>T	ENSP00000268057.4:p.Arg22Trp
ENST00000395205.6:c.-446+8965C>T	ENSP00000378631.3:n.-446+8965C>T
ENST00000561914.5:c.64C>T	ENSP00000457795.1:p.Arg22Trp
ENST00000562084.5:c.*143C>T	ENSP00000454718.1:n.*143C>T
ENST00000563600.5:c.*14C>T	ENSP00000457753.1:n.*14C>T
ENST00000564239.1:n.131C>T
ENST00000565160.5:c.64C>T	ENSP00000455412.1:p.Arg22Trp
ENST00000566400.5:c.24+8965C>T	ENSP00000456759.1:n.24+8965C>T
ENST00000566829.1:c.88C>T	ENSP00000455958.1:p.Arg30Trp
ENST00000566938.5:c.24+8965C>T	ENSP00000456463.1:n.24+8965C>T
ENST00000567279.5:c.64C>T	ENSP00000456664.1:p.Arg22Trp
ENST00000569338.5:c.55C>T	ENSP00000456758.1:p.Arg19Trp
ENST00000569440.5:c.64C>T	ENSP00000457958.1:p.Arg22Trp
NM_001252678.1:c.-446+8965C>T	NP_001239607.1:n.-446+8965C>T
NM_033028.4:c.64C>T	NP_149017.2:p.Arg22Trp
NR_045565.1:n.113C>T
NR_045566.1:n.426C>T
XM_006720625.2:c.64C>T	XP_006720688.1:p.Arg22Trp
XM_011521848.1:c.-458C>T	XP_011520150.1:n.-458C>T
XM_011521849.1:c.-341C>T	XP_011520151.1:n.-341C>T
XM_011521851.1:c.-550C>T	XP_011520153.1:n.-550C>T
NM_001320665.1:c.64C>T	NP_001307594.1:p.Arg22Trp
XM_017022450.1:c.88C>T	XP_016877939.1:p.Arg30Trp
XM_017022452.1:c.-341C>T	XP_016877941.1:n.-341C>T
XM_017022453.1:c.-346C>T	XP_016877942.1:n.-346C>T
XM_017022454.1:c.-334+8965C>T	XP_016877943.1:n.-334+8965C>T
NM_033028.5:c.64C>T MANE Select	NP_149017.2:p.Arg22Trp
NM_001252678.2:c.-446+8965C>T	NP_001239607.1:n.-446+8965C>T
NM_001320665.2:c.64C>T	NP_001307594.1:p.Arg22Trp
NR_045565.2:n.85C>T
NR_045566.2:n.398C>T