Canonical Allele Identifier: CA7646770

Gene: BBS4

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72731384G>T , CM000677.2:g.72731384G>T	GRCh38
NC_000015.9:g.73023725G>T , CM000677.1:g.73023725G>T	GRCh37
NC_000015.8:g.70810778G>T	NCBI36
NG_009416.2:g.50200G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_033028.5:c.791G>T MANE Select	NP_149017.2:p.Cys264Phe
ENST00000268057.9:c.791G>T MANE Select	ENSP00000268057.4:p.Cys264Phe
NM_001252678.1:c.275G>T	NP_001239607.1:p.Cys92Phe
NM_001252678.2:c.275G>T	NP_001239607.1:p.Cys92Phe
NM_001320665.1:c.722G>T	NP_001307594.1:p.Cys241Phe
NM_001320665.2:c.722G>T	NP_001307594.1:p.Cys241Phe
NM_033028.4:c.791G>T	NP_149017.2:p.Cys264Phe
NR_045565.1:n.898G>T
NR_045565.2:n.870G>T
NR_045566.1:n.1153G>T
NR_045566.2:n.1125G>T
ENST00000268057.8:c.791G>T	ENSP00000268057.4:p.Cys264Phe
ENST00000395205.6:c.275G>T	ENSP00000378631.3:p.Cys92Phe
ENST00000561914.5:c.*367G>T	ENSP00000457795.1:n.*367G>T
ENST00000562084.5:c.*870G>T	ENSP00000454718.1:n.*870G>T
ENST00000562219.1:n.226G>T
ENST00000566400.5:c.*681G>T	ENSP00000456759.1:n.*681G>T
ENST00000567279.5:c.*645G>T	ENSP00000456664.1:n.*645G>T
ENST00000569338.5:c.713G>T	ENSP00000456758.1:p.Cys238Phe
XM_006720625.2:c.722G>T	XP_006720688.1:p.Cys241Phe
XM_011521848.1:c.275G>T	XP_011520150.1:p.Cys92Phe
XM_011521849.1:c.275G>T	XP_011520151.1:p.Cys92Phe
XM_011521850.1:c.275G>T	XP_011520152.1:p.Cys92Phe
XM_011521851.1:c.59G>T	XP_011520153.1:p.Cys20Phe
XM_017022450.1:c.746G>T	XP_016877939.1:p.Cys249Phe
XM_017022452.1:c.275G>T	XP_016877941.1:p.Cys92Phe
XM_017022453.1:c.275G>T	XP_016877942.1:p.Cys92Phe
XM_017022454.1:c.275G>T	XP_016877943.1:p.Cys92Phe