Canonical Allele Identifier: CA7647024

Gene: BBS4

Linked Data - Expert Curation

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72736953G>A , CM000677.2:g.72736953G>A	GRCh38
NC_000015.9:g.73029294G>A , CM000677.1:g.73029294G>A	GRCh37
NC_000015.8:g.70816347G>A	NCBI36
NG_009416.2:g.55769G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268057.9:c.1440G>A MANE Select	ENSP00000268057.4:p.Thr480=
ENST00000268057.8:c.1440G>A	ENSP00000268057.4:p.Thr480=
ENST00000395205.6:c.924G>A	ENSP00000378631.3:p.Thr308=
ENST00000562084.5:c.*1519G>A	ENSP00000454718.1:n.*1519G>A
ENST00000566197.1:c.485G>A
ENST00000566400.5:c.*1330G>A	ENSP00000456759.1:n.*1330G>A
ENST00000567279.5:c.*1294G>A	ENSP00000456664.1:n.*1294G>A
ENST00000568535.1:n.642G>A
NM_001252678.1:c.924G>A	NP_001239607.1:p.Thr308=
NM_033028.4:c.1440G>A	NP_149017.2:p.Thr480=
NR_045565.1:n.1547G>A
NR_045566.1:n.1802G>A
XM_006720625.2:c.1371G>A	XP_006720688.1:p.Thr457=
XM_011521848.1:c.924G>A	XP_011520150.1:p.Thr308=
XM_011521849.1:c.924G>A	XP_011520151.1:p.Thr308=
XM_011521850.1:c.924G>A	XP_011520152.1:p.Thr308=
XM_011521851.1:c.708G>A	XP_011520153.1:p.Thr236=
NM_001320665.1:c.1371G>A	NP_001307594.1:p.Thr457=
XM_017022450.1:c.1395G>A	XP_016877939.1:p.Thr465=
XM_017022452.1:c.924G>A	XP_016877941.1:p.Thr308=
XM_017022453.1:c.924G>A	XP_016877942.1:p.Thr308=
XM_017022454.1:c.924G>A	XP_016877943.1:p.Thr308=
NM_033028.5:c.1440G>A MANE Select	NP_149017.2:p.Thr480=
NM_001252678.2:c.924G>A	NP_001239607.1:p.Thr308=
NM_001320665.2:c.1371G>A	NP_001307594.1:p.Thr457=
NR_045565.2:n.1519G>A
NR_045566.2:n.1774G>A