Canonical Allele Identifier: CA10588975
Gene: BBS4 HGNC NCBI

Linked Data

ClinVar Variation Id: 266089
dbSNP Id: rs886039802

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.72712259C>T , CM000677.2:g.72712259C>T GRCh38
NC_000015.9:g.73004600C>T , CM000677.1:g.73004600C>T GRCh37
NC_000015.8:g.70791653C>T NCBI36
NG_009416.2:g.31075C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000268057.9:c.172C>T MANE Select ENSP00000268057.4:p.Gln58Ter
ENST00000268057.8:c.172C>T ENSP00000268057.4:p.Gln58Ter
ENST00000395205.6:c.-350C>T ENSP00000378631.3:n.-350C>T
ENST00000561914.5:c.172C>T ENSP00000457795.1:p.Gln58Ter
ENST00000562084.5:c.*251C>T ENSP00000454718.1:n.*251C>T
ENST00000563600.5:c.*122C>T ENSP00000457753.1:n.*122C>T
ENST00000564239.1:n.239C>T
ENST00000565160.5:c.172C>T ENSP00000455412.1:p.Gln58Ter
ENST00000566400.5:c.*57C>T ENSP00000456759.1:n.*57C>T
ENST00000566829.1:c.190C>T ENSP00000455958.1:p.Gln64Ter
ENST00000566938.5:c.*57C>T ENSP00000456463.1:n.*57C>T
ENST00000567279.5:c.*26C>T ENSP00000456664.1:n.*26C>T
ENST00000569338.5:c.163C>T ENSP00000456758.1:p.Gln55Ter
ENST00000569440.5:c.*116C>T ENSP00000457958.1:n.*116C>T
NM_001252678.1:c.-350C>T NP_001239607.1:n.-350C>T
NM_033028.4:c.172C>T NP_149017.2:p.Gln58Ter
NR_045565.1:n.279C>T
NR_045566.1:n.534C>T
XM_006720625.2:c.172C>T XP_006720688.1:p.Gln58Ter
XM_011521848.1:c.-350C>T XP_011520150.1:n.-350C>T
XM_011521849.1:c.-233C>T XP_011520151.1:n.-233C>T
XM_011521850.1:c.-238C>T XP_011520152.1:n.-238C>T
XM_011521851.1:c.-442C>T XP_011520153.1:n.-442C>T
NM_001320665.1:c.172C>T NP_001307594.1:p.Gln58Ter
XM_017022450.1:c.196C>T XP_016877939.1:p.Gln66Ter
XM_017022452.1:c.-233C>T XP_016877941.1:n.-233C>T
XM_017022453.1:c.-238C>T XP_016877942.1:n.-238C>T
XM_017022454.1:c.-238C>T XP_016877943.1:n.-238C>T
NM_033028.5:c.172C>T MANE Select NP_149017.2:p.Gln58Ter
NM_001252678.2:c.-350C>T NP_001239607.1:n.-350C>T
NM_001320665.2:c.172C>T NP_001307594.1:p.Gln58Ter
NR_045565.2:n.251C>T
NR_045566.2:n.506C>T