Canonical Allele Identifier: CA393075764

Gene: BBS4

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72709708T>G , CM000677.2:g.72709708T>G	GRCh38
NC_000015.9:g.73002049T>G , CM000677.1:g.73002049T>G	GRCh37
NC_000015.8:g.70789102T>G	NCBI36
NG_009416.2:g.28524T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268057.9:c.85T>G MANE Select	ENSP00000268057.4:p.Phe29Val
ENST00000268057.8:c.85T>G	ENSP00000268057.4:p.Phe29Val
ENST00000395205.6:c.-437T>G	ENSP00000378631.3:n.-437T>G
ENST00000561914.5:c.85T>G	ENSP00000457795.1:p.Phe29Val
ENST00000562084.5:c.*164T>G	ENSP00000454718.1:n.*164T>G
ENST00000563600.5:c.*35T>G	ENSP00000457753.1:n.*35T>G
ENST00000564239.1:n.152T>G
ENST00000565160.5:c.85T>G	ENSP00000455412.1:p.Phe29Val
ENST00000566400.5:c.33T>G	ENSP00000456759.1:p.Ser11Arg
ENST00000566829.1:c.103T>G	ENSP00000455958.1:p.Phe35Val
ENST00000566938.5:c.33T>G	ENSP00000456463.1:p.Ser11Arg
ENST00000567279.5:c.143T>G	ENSP00000456664.1:p.Val48Gly
ENST00000569338.5:c.76T>G	ENSP00000456758.1:p.Phe26Val
ENST00000569440.5:c.*29T>G	ENSP00000457958.1:n.*29T>G
NM_001252678.1:c.-437T>G	NP_001239607.1:n.-437T>G
NM_033028.4:c.85T>G	NP_149017.2:p.Phe29Val
NR_045565.1:n.192T>G
NR_045566.1:n.447T>G
XM_006720625.2:c.85T>G	XP_006720688.1:p.Phe29Val
XM_011521848.1:c.-437T>G	XP_011520150.1:n.-437T>G
XM_011521849.1:c.-320T>G	XP_011520151.1:n.-320T>G
XM_011521851.1:c.-529T>G	XP_011520153.1:n.-529T>G
NM_001320665.1:c.85T>G	NP_001307594.1:p.Phe29Val
XM_017022450.1:c.109T>G	XP_016877939.1:p.Phe37Val
XM_017022452.1:c.-320T>G	XP_016877941.1:n.-320T>G
XM_017022453.1:c.-325T>G	XP_016877942.1:n.-325T>G
XM_017022454.1:c.-325T>G	XP_016877943.1:n.-325T>G
NM_033028.5:c.85T>G MANE Select	NP_149017.2:p.Phe29Val
NM_001252678.2:c.-437T>G	NP_001239607.1:n.-437T>G
NM_001320665.2:c.85T>G	NP_001307594.1:p.Phe29Val
NR_045565.2:n.164T>G
NR_045566.2:n.419T>G