Canonical Allele Identifier: CA7646418

Gene: BBS4

Linked Data

• ClinVar Variation Id: 262138
• ClinVar RCV Id: RCV000249755 ; RCV002519941
• dbSNP Id: rs543735239
• ExAC: 15:72978580 G / A
• gnomAD v2: 15-72978580-G-A
• gnomAD v3: 15-72686239-G-A
• gnomAD v4: 15-72686239-G-A
• MyVariant Identifiers: chr15:g.72978580G>A (hg19) ; chr15:g.72686239G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72686239G>A , CM000677.2:g.72686239G>A	GRCh38
NC_000015.9:g.72978580G>A , CM000677.1:g.72978580G>A	GRCh37
NC_000015.8:g.70765633G>A	NCBI36
NG_009416.2:g.5055G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268057.9:c.12G>A MANE Select	ENSP00000268057.4:p.Glu4=
ENST00000268057.8:c.12G>A	ENSP00000268057.4:p.Glu4=
ENST00000395205.6:c.-458G>A	ENSP00000378631.3:n.-458G>A
ENST00000561914.5:c.12G>A	ENSP00000457795.1:p.Glu4=
ENST00000562084.5:c.12G>A	ENSP00000454718.1:p.Glu4=
ENST00000563600.5:c.12G>A	ENSP00000457753.1:p.Glu4=
ENST00000565160.5:c.12G>A	ENSP00000455412.1:p.Glu4=
ENST00000566400.5:c.12G>A	ENSP00000456759.1:p.Glu4=
ENST00000566938.5:c.12G>A	ENSP00000456463.1:p.Glu4=
ENST00000567279.5:c.12G>A	ENSP00000456664.1:p.Glu4=
ENST00000569338.5:c.3G>A	ENSP00000456758.1:p.Glu1=
ENST00000569440.5:c.12G>A	ENSP00000457958.1:p.Glu4=
NM_001252678.1:c.-458G>A	NP_001239607.1:n.-458G>A
NM_033028.4:c.12G>A	NP_149017.2:p.Glu4=
NR_045565.1:n.61G>A
NR_045566.1:n.61G>A
XM_006720625.2:c.12G>A	XP_006720688.1:p.Glu4=
XM_011521848.1:c.-510G>A	XP_011520150.1:n.-510G>A
XM_011521849.1:c.-393G>A	XP_011520151.1:n.-393G>A
XM_011521851.1:c.-602G>A	XP_011520153.1:n.-602G>A
NM_001320665.1:c.12G>A	NP_001307594.1:p.Glu4=
XM_017022450.1:c.-278G>A	XP_016877939.1:n.-278G>A
XM_017022452.1:c.-706G>A	XP_016877941.1:n.-706G>A
XM_017022453.1:c.-398G>A	XP_016877942.1:n.-398G>A
XM_017022454.1:c.-346G>A	XP_016877943.1:n.-346G>A
NM_033028.5:c.12G>A MANE Select	NP_149017.2:p.Glu4=
NM_001252678.2:c.-458G>A	NP_001239607.1:n.-458G>A
NM_001320665.2:c.12G>A	NP_001307594.1:p.Glu4=
NR_045565.2:n.33G>A
NR_045566.2:n.33G>A