Canonical Allele Identifier: CA10604758

Gene: BBS4

Linked Data

• ClinVar Variation Id: 284314
• ClinVar RCV Id: RCV000403877 ; RCV002519147
• dbSNP Id: rs886042845
• gnomAD v3: 15-72736973-T-C
• gnomAD v4: 15-72736973-T-C
• MyVariant Identifiers: chr15:g.73029314T>C (hg19) ; chr15:g.72736973T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72736973T>C , CM000677.2:g.72736973T>C	GRCh38
NC_000015.9:g.73029314T>C , CM000677.1:g.73029314T>C	GRCh37
NC_000015.8:g.70816367T>C	NCBI36
NG_009416.2:g.55789T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268057.9:c.1450+10T>C MANE Select	ENSP00000268057.4:n.1450+10T>C
ENST00000268057.8:c.1450+10T>C	ENSP00000268057.4:n.1450+10T>C
ENST00000395205.6:c.934+10T>C	ENSP00000378631.3:n.934+10T>C
ENST00000562084.5:c.*1529+10T>C	ENSP00000454718.1:n.*1529+10T>C
ENST00000566197.1:c.495+10T>C
ENST00000566400.5:c.*1340+10T>C	ENSP00000456759.1:n.*1340+10T>C
ENST00000567279.5:c.*1304+10T>C	ENSP00000456664.1:n.*1304+10T>C
ENST00000568535.1:n.662T>C
NM_001252678.1:c.934+10T>C	NP_001239607.1:n.934+10T>C
NM_033028.4:c.1450+10T>C	NP_149017.2:n.1450+10T>C
NR_045565.1:n.1557+10T>C
NR_045566.1:n.1812+10T>C
XM_006720625.2:c.1381+10T>C	XP_006720688.1:n.1381+10T>C
XM_011521848.1:c.934+10T>C	XP_011520150.1:n.934+10T>C
XM_011521849.1:c.934+10T>C	XP_011520151.1:n.934+10T>C
XM_011521850.1:c.934+10T>C	XP_011520152.1:n.934+10T>C
XM_011521851.1:c.718+10T>C	XP_011520153.1:n.718+10T>C
NM_001320665.1:c.1381+10T>C	NP_001307594.1:n.1381+10T>C
XM_017022450.1:c.1405+10T>C	XP_016877939.1:n.1405+10T>C
XM_017022452.1:c.934+10T>C	XP_016877941.1:n.934+10T>C
XM_017022453.1:c.934+10T>C	XP_016877942.1:n.934+10T>C
XM_017022454.1:c.934+10T>C	XP_016877943.1:n.934+10T>C
NM_033028.5:c.1450+10T>C MANE Select	NP_149017.2:n.1450+10T>C
NM_001252678.2:c.934+10T>C	NP_001239607.1:n.934+10T>C
NM_001320665.2:c.1381+10T>C	NP_001307594.1:n.1381+10T>C
NR_045565.2:n.1529+10T>C
NR_045566.2:n.1784+10T>C