Canonical Allele Identifier: CA7646926

Gene: BBS4

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72735858G>A , CM000677.2:g.72735858G>A	GRCh38
NC_000015.9:g.73028199G>A , CM000677.1:g.73028199G>A	GRCh37
NC_000015.8:g.70815252G>A	NCBI36
NG_009416.2:g.54674G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268057.9:c.1140G>A MANE Select	ENSP00000268057.4:p.Val380=
ENST00000268057.8:c.1140G>A	ENSP00000268057.4:p.Val380=
ENST00000395205.6:c.624G>A	ENSP00000378631.3:p.Val208=
ENST00000562084.5:c.*1219G>A	ENSP00000454718.1:n.*1219G>A
ENST00000566197.1:c.185G>A
ENST00000566400.5:c.*1030G>A	ENSP00000456759.1:n.*1030G>A
ENST00000567279.5:c.*994G>A	ENSP00000456664.1:n.*994G>A
ENST00000568535.1:n.342G>A
NM_001252678.1:c.624G>A	NP_001239607.1:p.Val208=
NM_033028.4:c.1140G>A	NP_149017.2:p.Val380=
NR_045565.1:n.1247G>A
NR_045566.1:n.1502G>A
XM_006720625.2:c.1071G>A	XP_006720688.1:p.Val357=
XM_011521848.1:c.624G>A	XP_011520150.1:p.Val208=
XM_011521849.1:c.624G>A	XP_011520151.1:p.Val208=
XM_011521850.1:c.624G>A	XP_011520152.1:p.Val208=
XM_011521851.1:c.408G>A	XP_011520153.1:p.Val136=
NM_001320665.1:c.1071G>A	NP_001307594.1:p.Val357=
XM_017022450.1:c.1095G>A	XP_016877939.1:p.Val365=
XM_017022452.1:c.624G>A	XP_016877941.1:p.Val208=
XM_017022453.1:c.624G>A	XP_016877942.1:p.Val208=
XM_017022454.1:c.624G>A	XP_016877943.1:p.Val208=
NM_033028.5:c.1140G>A MANE Select	NP_149017.2:p.Val380=
NM_001252678.2:c.624G>A	NP_001239607.1:p.Val208=
NM_001320665.2:c.1071G>A	NP_001307594.1:p.Val357=
NR_045565.2:n.1219G>A
NR_045566.2:n.1474G>A