Canonical Allele Identifier: CA16614491

Gene: BBS4

Linked Data

• ClinVar Variation Id: 412298
• ClinVar RCV Id: RCV000471858 ; RCV003463973
• dbSNP Id: rs1060503692
• MyVariant Identifiers: chr15:g.73020331T>A (hg19) ; chr15:g.72727990T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72727990T>A , CM000677.2:g.72727990T>A	GRCh38
NC_000015.9:g.73020331T>A , CM000677.1:g.73020331T>A	GRCh37
NC_000015.8:g.70807384T>A	NCBI36
NG_009416.2:g.46806T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268057.9:c.638T>A MANE Select	ENSP00000268057.4:p.Leu213Ter
ENST00000268057.8:c.638T>A	ENSP00000268057.4:p.Leu213Ter
ENST00000395205.6:c.122T>A	ENSP00000378631.3:p.Leu41Ter
ENST00000561914.5:c.*214T>A	ENSP00000457795.1:n.*214T>A
ENST00000562084.5:c.*717T>A	ENSP00000454718.1:n.*717T>A
ENST00000562219.1:n.147-3315T>A
ENST00000565160.5:c.*214T>A	ENSP00000455412.1:n.*214T>A
ENST00000566400.5:c.*528T>A	ENSP00000456759.1:n.*528T>A
ENST00000567279.5:c.*492T>A	ENSP00000456664.1:n.*492T>A
ENST00000569338.5:c.629T>A	ENSP00000456758.1:p.Leu210Ter
NM_001252678.1:c.122T>A	NP_001239607.1:p.Leu41Ter
NM_033028.4:c.638T>A	NP_149017.2:p.Leu213Ter
NR_045565.1:n.745T>A
NR_045566.1:n.1000T>A
XM_006720625.2:c.638T>A	XP_006720688.1:p.Leu213Ter
XM_011521848.1:c.122T>A	XP_011520150.1:p.Leu41Ter
XM_011521849.1:c.122T>A	XP_011520151.1:p.Leu41Ter
XM_011521850.1:c.122T>A	XP_011520152.1:p.Leu41Ter
XM_011521851.1:c.-21-3315T>A	XP_011520153.1:n.-21-3315T>A
NM_001320665.1:c.638T>A	NP_001307594.1:p.Leu213Ter
XM_017022450.1:c.662T>A	XP_016877939.1:p.Leu221Ter
XM_017022452.1:c.122T>A	XP_016877941.1:p.Leu41Ter
XM_017022453.1:c.122T>A	XP_016877942.1:p.Leu41Ter
XM_017022454.1:c.122T>A	XP_016877943.1:p.Leu41Ter
NM_033028.5:c.638T>A MANE Select	NP_149017.2:p.Leu213Ter
NM_001252678.2:c.122T>A	NP_001239607.1:p.Leu41Ter
NM_001320665.2:c.638T>A	NP_001307594.1:p.Leu213Ter
NR_045565.2:n.717T>A
NR_045566.2:n.972T>A