Canonical Allele Identifier: CA7646809

Gene: BBS4

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72731457G>A , CM000677.2:g.72731457G>A	GRCh38
NC_000015.9:g.73023798G>A , CM000677.1:g.73023798G>A	GRCh37
NC_000015.8:g.70810851G>A	NCBI36
NG_009416.2:g.50273G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268057.9:c.864G>A MANE Select	ENSP00000268057.4:p.Ala288=
ENST00000268057.8:c.864G>A	ENSP00000268057.4:p.Ala288=
ENST00000395205.6:c.348G>A	ENSP00000378631.3:p.Ala116=
ENST00000561914.5:c.*440G>A	ENSP00000457795.1:n.*440G>A
ENST00000562084.5:c.*943G>A	ENSP00000454718.1:n.*943G>A
ENST00000562219.1:n.299G>A
ENST00000566400.5:c.*754G>A	ENSP00000456759.1:n.*754G>A
ENST00000567279.5:c.*718G>A	ENSP00000456664.1:n.*718G>A
ENST00000569338.5:c.786G>A	ENSP00000456758.1:p.Ala262=
NM_001252678.1:c.348G>A	NP_001239607.1:p.Ala116=
NM_033028.4:c.864G>A	NP_149017.2:p.Ala288=
NR_045565.1:n.971G>A
NR_045566.1:n.1226G>A
XM_006720625.2:c.795G>A	XP_006720688.1:p.Ala265=
XM_011521848.1:c.348G>A	XP_011520150.1:p.Ala116=
XM_011521849.1:c.348G>A	XP_011520151.1:p.Ala116=
XM_011521850.1:c.348G>A	XP_011520152.1:p.Ala116=
XM_011521851.1:c.132G>A	XP_011520153.1:p.Ala44=
NM_001320665.1:c.795G>A	NP_001307594.1:p.Ala265=
XM_017022450.1:c.819G>A	XP_016877939.1:p.Ala273=
XM_017022452.1:c.348G>A	XP_016877941.1:p.Ala116=
XM_017022453.1:c.348G>A	XP_016877942.1:p.Ala116=
XM_017022454.1:c.348G>A	XP_016877943.1:p.Ala116=
NM_033028.5:c.864G>A MANE Select	NP_149017.2:p.Ala288=
NM_001252678.2:c.348G>A	NP_001239607.1:p.Ala116=
NM_001320665.2:c.795G>A	NP_001307594.1:p.Ala265=
NR_045565.2:n.943G>A
NR_045566.2:n.1198G>A