Canonical Allele Identifier: CA393074972

Gene: BBS4

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72686229T>C , CM000677.2:g.72686229T>C	GRCh38
NC_000015.9:g.72978570T>C , CM000677.1:g.72978570T>C	GRCh37
NC_000015.8:g.70765623T>C	NCBI36
NG_009416.2:g.5045T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268057.9:c.2T>C MANE Select	ENSP00000268057.4:p.Met1Thr
ENST00000268057.8:c.2T>C	ENSP00000268057.4:p.Met1Thr
ENST00000395205.6:c.-468T>C	ENSP00000378631.3:n.-468T>C
ENST00000561914.5:c.2T>C	ENSP00000457795.1:p.Met1Thr
ENST00000562084.5:c.2T>C	ENSP00000454718.1:p.Met1Thr
ENST00000563600.5:c.2T>C	ENSP00000457753.1:p.Met1Thr
ENST00000565160.5:c.2T>C	ENSP00000455412.1:p.Met1Thr
ENST00000566400.5:c.2T>C	ENSP00000456759.1:p.Met1Thr
ENST00000566938.5:c.2T>C	ENSP00000456463.1:p.Met1Thr
ENST00000567279.5:c.2T>C	ENSP00000456664.1:p.Met1Thr
ENST00000569440.5:c.2T>C	ENSP00000457958.1:p.Met1Thr
NM_001252678.1:c.-468T>C	NP_001239607.1:n.-468T>C
NM_033028.4:c.2T>C	NP_149017.2:p.Met1Thr
NR_045565.1:n.51T>C
NR_045566.1:n.51T>C
XM_006720625.2:c.2T>C	XP_006720688.1:p.Met1Thr
XM_011521848.1:c.-520T>C	XP_011520150.1:n.-520T>C
XM_011521849.1:c.-403T>C	XP_011520151.1:n.-403T>C
XM_011521851.1:c.-612T>C	XP_011520153.1:n.-612T>C
NM_001320665.1:c.2T>C	NP_001307594.1:p.Met1Thr
XM_017022450.1:c.-288T>C	XP_016877939.1:n.-288T>C
XM_017022452.1:c.-716T>C	XP_016877941.1:n.-716T>C
XM_017022453.1:c.-408T>C	XP_016877942.1:n.-408T>C
XM_017022454.1:c.-356T>C	XP_016877943.1:n.-356T>C
NM_033028.5:c.2T>C MANE Select	NP_149017.2:p.Met1Thr
NM_001252678.2:c.-468T>C	NP_001239607.1:n.-468T>C
NM_001320665.2:c.2T>C	NP_001307594.1:p.Met1Thr
NR_045565.2:n.23T>C
NR_045566.2:n.23T>C