Canonical Allele Identifier: CA342422

Gene: BBS4

Linked Data

• ClinVar Variation Id: 21729
• ClinVar RCV Id: RCV000020933
• dbSNP Id: rs113994190
• MyVariant Identifiers: chr15:g.73004649G>C (hg19) ; chr15:g.72712308G>C (hg38)
• PubMed: PMID:11381270 ; PMID:20301537

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72712308G>C , CM000677.2:g.72712308G>C	GRCh38
NC_000015.9:g.73004649G>C , CM000677.1:g.73004649G>C	GRCh37
NC_000015.8:g.70791702G>C	NCBI36
NG_009416.2:g.31124G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268057.9:c.220+1G>C MANE Select	ENSP00000268057.4:n.220+1G>C
ENST00000268057.8:c.220+1G>C	ENSP00000268057.4:n.220+1G>C
ENST00000395205.6:c.-302+1G>C	ENSP00000378631.3:n.-302+1G>C
ENST00000561914.5:c.220+1G>C	ENSP00000457795.1:n.220+1G>C
ENST00000562084.5:c.*299+1G>C	ENSP00000454718.1:n.*299+1G>C
ENST00000563600.5:c.*170+1G>C	ENSP00000457753.1:n.*170+1G>C
ENST00000564239.1:n.287+1G>C
ENST00000565160.5:c.220+1G>C	ENSP00000455412.1:n.220+1G>C
ENST00000566400.5:c.*105+1G>C	ENSP00000456759.1:n.*105+1G>C
ENST00000566829.1:c.238+1G>C	ENSP00000455958.1:n.238+1G>C
ENST00000566938.5:c.*105+1G>C	ENSP00000456463.1:n.*105+1G>C
ENST00000567279.5:c.*74+1G>C	ENSP00000456664.1:n.*74+1G>C
ENST00000569338.5:c.211+1G>C	ENSP00000456758.1:n.211+1G>C
ENST00000569440.5:c.*164+1G>C	ENSP00000457958.1:n.*164+1G>C
NM_001252678.1:c.-302+1G>C	NP_001239607.1:n.-302+1G>C
NM_033028.4:c.220+1G>C	NP_149017.2:n.220+1G>C
NR_045565.1:n.327+1G>C
NR_045566.1:n.582+1G>C
XM_006720625.2:c.220+1G>C	XP_006720688.1:n.220+1G>C
XM_011521848.1:c.-302+1G>C	XP_011520150.1:n.-302+1G>C
XM_011521849.1:c.-185+1G>C	XP_011520151.1:n.-185+1G>C
XM_011521850.1:c.-190+1G>C	XP_011520152.1:n.-190+1G>C
XM_011521851.1:c.-394+1G>C	XP_011520153.1:n.-394+1G>C
NM_001320665.1:c.220+1G>C	NP_001307594.1:n.220+1G>C
XM_017022450.1:c.244+1G>C	XP_016877939.1:n.244+1G>C
XM_017022452.1:c.-185+1G>C	XP_016877941.1:n.-185+1G>C
XM_017022453.1:c.-190+1G>C	XP_016877942.1:n.-190+1G>C
XM_017022454.1:c.-190+1G>C	XP_016877943.1:n.-190+1G>C
NM_033028.5:c.220+1G>C MANE Select	NP_149017.2:n.220+1G>C
NM_001252678.2:c.-302+1G>C	NP_001239607.1:n.-302+1G>C
NM_001320665.2:c.220+1G>C	NP_001307594.1:n.220+1G>C
NR_045565.2:n.299+1G>C
NR_045566.2:n.554+1G>C