Canonical Allele Identifier: CA272613050

Gene: BBS4

Linked Data

• ClinVar Variation Id: 1375048
• ClinVar RCV Id: RCV001883248
• dbSNP Id: rs923399180
• gnomAD v2: 15-72978573-C-T
• gnomAD v3: 15-72686232-C-T
• gnomAD v4: 15-72686232-C-T
• MyVariant Identifiers: chr15:g.72978573C>T (hg19) ; chr15:g.72686232C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72686232C>T , CM000677.2:g.72686232C>T	GRCh38
NC_000015.9:g.72978573C>T , CM000677.1:g.72978573C>T	GRCh37
NC_000015.8:g.70765626C>T	NCBI36
NG_009416.2:g.5048C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268057.9:c.5C>T MANE Select	ENSP00000268057.4:p.Ala2Val
ENST00000268057.8:c.5C>T	ENSP00000268057.4:p.Ala2Val
ENST00000395205.6:c.-465C>T	ENSP00000378631.3:n.-465C>T
ENST00000561914.5:c.5C>T	ENSP00000457795.1:p.Ala2Val
ENST00000562084.5:c.5C>T	ENSP00000454718.1:p.Ala2Val
ENST00000563600.5:c.5C>T	ENSP00000457753.1:p.Ala2Val
ENST00000565160.5:c.5C>T	ENSP00000455412.1:p.Ala2Val
ENST00000566400.5:c.5C>T	ENSP00000456759.1:p.Ala2Val
ENST00000566938.5:c.5C>T	ENSP00000456463.1:p.Ala2Val
ENST00000567279.5:c.5C>T	ENSP00000456664.1:p.Ala2Val
ENST00000569440.5:c.5C>T	ENSP00000457958.1:p.Ala2Val
NM_001252678.1:c.-465C>T	NP_001239607.1:n.-465C>T
NM_033028.4:c.5C>T	NP_149017.2:p.Ala2Val
NR_045565.1:n.54C>T
NR_045566.1:n.54C>T
XM_006720625.2:c.5C>T	XP_006720688.1:p.Ala2Val
XM_011521848.1:c.-517C>T	XP_011520150.1:n.-517C>T
XM_011521849.1:c.-400C>T	XP_011520151.1:n.-400C>T
XM_011521851.1:c.-609C>T	XP_011520153.1:n.-609C>T
NM_001320665.1:c.5C>T	NP_001307594.1:p.Ala2Val
XM_017022450.1:c.-285C>T	XP_016877939.1:n.-285C>T
XM_017022452.1:c.-713C>T	XP_016877941.1:n.-713C>T
XM_017022453.1:c.-405C>T	XP_016877942.1:n.-405C>T
XM_017022454.1:c.-353C>T	XP_016877943.1:n.-353C>T
NM_033028.5:c.5C>T MANE Select	NP_149017.2:p.Ala2Val
NM_001252678.2:c.-465C>T	NP_001239607.1:n.-465C>T
NM_001320665.2:c.5C>T	NP_001307594.1:p.Ala2Val
NR_045565.2:n.26C>T
NR_045566.2:n.26C>T