Canonical Allele Identifier: CA618764580

Gene: BBS4

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72712235C>T , CM000677.2:g.72712235C>T	GRCh38
NC_000015.9:g.73004576C>T , CM000677.1:g.73004576C>T	GRCh37
NC_000015.8:g.70791629C>T	NCBI36
NG_009416.2:g.31051C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268057.9:c.157-9C>T MANE Select	ENSP00000268057.4:n.157-9C>T
ENST00000268057.8:c.157-9C>T	ENSP00000268057.4:n.157-9C>T
ENST00000395205.6:c.-365-9C>T	ENSP00000378631.3:n.-365-9C>T
ENST00000561914.5:c.157-9C>T	ENSP00000457795.1:n.157-9C>T
ENST00000562084.5:c.*236-9C>T	ENSP00000454718.1:n.*236-9C>T
ENST00000563600.5:c.*107-9C>T	ENSP00000457753.1:n.*107-9C>T
ENST00000564239.1:n.224-9C>T
ENST00000565160.5:c.157-9C>T	ENSP00000455412.1:n.157-9C>T
ENST00000566400.5:c.*42-9C>T	ENSP00000456759.1:n.*42-9C>T
ENST00000566829.1:c.175-9C>T	ENSP00000455958.1:n.175-9C>T
ENST00000566938.5:c.*42-9C>T	ENSP00000456463.1:n.*42-9C>T
ENST00000567279.5:c.*11-9C>T	ENSP00000456664.1:n.*11-9C>T
ENST00000569338.5:c.148-9C>T	ENSP00000456758.1:n.148-9C>T
ENST00000569440.5:c.*101-9C>T	ENSP00000457958.1:n.*101-9C>T
NM_001252678.1:c.-365-9C>T	NP_001239607.1:n.-365-9C>T
NM_033028.4:c.157-9C>T	NP_149017.2:n.157-9C>T
NR_045565.1:n.264-9C>T
NR_045566.1:n.519-9C>T
XM_006720625.2:c.157-9C>T	XP_006720688.1:n.157-9C>T
XM_011521848.1:c.-365-9C>T	XP_011520150.1:n.-365-9C>T
XM_011521849.1:c.-248-9C>T	XP_011520151.1:n.-248-9C>T
XM_011521851.1:c.-457-9C>T	XP_011520153.1:n.-457-9C>T
NM_001320665.1:c.157-9C>T	NP_001307594.1:n.157-9C>T
XM_017022450.1:c.181-9C>T	XP_016877939.1:n.181-9C>T
XM_017022452.1:c.-248-9C>T	XP_016877941.1:n.-248-9C>T
XM_017022453.1:c.-253-9C>T	XP_016877942.1:n.-253-9C>T
XM_017022454.1:c.-253-9C>T	XP_016877943.1:n.-253-9C>T
NM_033028.5:c.157-9C>T MANE Select	NP_149017.2:n.157-9C>T
NM_001252678.2:c.-365-9C>T	NP_001239607.1:n.-365-9C>T
NM_001320665.2:c.157-9C>T	NP_001307594.1:n.157-9C>T
NR_045565.2:n.236-9C>T
NR_045566.2:n.491-9C>T