Canonical Allele Identifier: CA393075057

Gene: BBS4

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72686246G>C , CM000677.2:g.72686246G>C	GRCh38
NC_000015.9:g.72978587G>C , CM000677.1:g.72978587G>C	GRCh37
NC_000015.8:g.70765640G>C	NCBI36
NG_009416.2:g.5062G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268057.9:c.19G>C MANE Select	ENSP00000268057.4:p.Ala7Pro
ENST00000268057.8:c.19G>C	ENSP00000268057.4:p.Ala7Pro
ENST00000395205.6:c.-451G>C	ENSP00000378631.3:n.-451G>C
ENST00000561914.5:c.19G>C	ENSP00000457795.1:p.Ala7Pro
ENST00000562084.5:c.19G>C	ENSP00000454718.1:p.Ala7Pro
ENST00000563600.5:c.19G>C	ENSP00000457753.1:p.Ala7Pro
ENST00000565160.5:c.19G>C	ENSP00000455412.1:p.Ala7Pro
ENST00000566400.5:c.19G>C	ENSP00000456759.1:p.Ala7Pro
ENST00000566938.5:c.19G>C	ENSP00000456463.1:p.Ala7Pro
ENST00000567279.5:c.19G>C	ENSP00000456664.1:p.Ala7Pro
ENST00000569338.5:c.10G>C	ENSP00000456758.1:p.Ala4Pro
ENST00000569440.5:c.19G>C	ENSP00000457958.1:p.Ala7Pro
NM_001252678.1:c.-451G>C	NP_001239607.1:n.-451G>C
NM_033028.4:c.19G>C	NP_149017.2:p.Ala7Pro
NR_045565.1:n.68G>C
NR_045566.1:n.68G>C
XM_006720625.2:c.19G>C	XP_006720688.1:p.Ala7Pro
XM_011521848.1:c.-503G>C	XP_011520150.1:n.-503G>C
XM_011521849.1:c.-386G>C	XP_011520151.1:n.-386G>C
XM_011521851.1:c.-595G>C	XP_011520153.1:n.-595G>C
NM_001320665.1:c.19G>C	NP_001307594.1:p.Ala7Pro
XM_017022450.1:c.-271G>C	XP_016877939.1:n.-271G>C
XM_017022452.1:c.-699G>C	XP_016877941.1:n.-699G>C
XM_017022453.1:c.-391G>C	XP_016877942.1:n.-391G>C
XM_017022454.1:c.-339G>C	XP_016877943.1:n.-339G>C
NM_033028.5:c.19G>C MANE Select	NP_149017.2:p.Ala7Pro
NM_001252678.2:c.-451G>C	NP_001239607.1:n.-451G>C
NM_001320665.2:c.19G>C	NP_001307594.1:p.Ala7Pro
NR_045565.2:n.40G>C
NR_045566.2:n.40G>C