Canonical Allele Identifier: CA7646750

Gene: BBS4

Linked Data

• ClinVar Variation Id: 236484
• ClinVar RCV Id: RCV000225493 ; RCV000638346 ; RCV000778446 ; RCV003937879
• dbSNP Id: rs377031435
• ExAC: 15:73023645 G / A
• gnomAD v2: 15-73023645-G-A
• gnomAD v3: 15-72731304-G-A
• gnomAD v4: 15-72731304-G-A
• MyVariant Identifiers: chr15:g.73023645G>A (hg19) ; chr15:g.72731304G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72731304G>A , CM000677.2:g.72731304G>A	GRCh38
NC_000015.9:g.73023645G>A , CM000677.1:g.73023645G>A	GRCh37
NC_000015.8:g.70810698G>A	NCBI36
NG_009416.2:g.50120G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268057.9:c.712-1G>A MANE Select	ENSP00000268057.4:n.712-1G>A
ENST00000268057.8:c.712-1G>A	ENSP00000268057.4:n.712-1G>A
ENST00000395205.6:c.196-1G>A	ENSP00000378631.3:n.196-1G>A
ENST00000561914.5:c.*288-1G>A	ENSP00000457795.1:n.*288-1G>A
ENST00000562084.5:c.*791-1G>A	ENSP00000454718.1:n.*791-1G>A
ENST00000562219.1:n.147-1G>A
ENST00000566400.5:c.*602-1G>A	ENSP00000456759.1:n.*602-1G>A
ENST00000567279.5:c.*566-1G>A	ENSP00000456664.1:n.*566-1G>A
ENST00000569338.5:c.634-1G>A	ENSP00000456758.1:n.634-1G>A
NM_001252678.1:c.196-1G>A	NP_001239607.1:n.196-1G>A
NM_033028.4:c.712-1G>A	NP_149017.2:n.712-1G>A
NR_045565.1:n.819-1G>A
NR_045566.1:n.1074-1G>A
XM_006720625.2:c.643-1G>A	XP_006720688.1:n.643-1G>A
XM_011521848.1:c.196-1G>A	XP_011520150.1:n.196-1G>A
XM_011521849.1:c.196-1G>A	XP_011520151.1:n.196-1G>A
XM_011521850.1:c.196-1G>A	XP_011520152.1:n.196-1G>A
XM_011521851.1:c.-21-1G>A	XP_011520153.1:n.-21-1G>A
NM_001320665.1:c.643-1G>A	NP_001307594.1:n.643-1G>A
XM_017022450.1:c.667-1G>A	XP_016877939.1:n.667-1G>A
XM_017022452.1:c.196-1G>A	XP_016877941.1:n.196-1G>A
XM_017022453.1:c.196-1G>A	XP_016877942.1:n.196-1G>A
XM_017022454.1:c.196-1G>A	XP_016877943.1:n.196-1G>A
NM_033028.5:c.712-1G>A MANE Select	NP_149017.2:n.712-1G>A
NM_001252678.2:c.196-1G>A	NP_001239607.1:n.196-1G>A
NM_001320665.2:c.643-1G>A	NP_001307594.1:n.643-1G>A
NR_045565.2:n.791-1G>A
NR_045566.2:n.1046-1G>A