Canonical Allele Identifier: CA358058841

Gene: BBS7

Linked Data

• ClinVar Variation Id: 531822
• ClinVar RCV Id: RCV000638355
• dbSNP Id: rs991365297
• MyVariant Identifiers: chr4:g.122756397A>T (hg19) ; chr4:g.121835242A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.121835242A>T , CM000666.2:g.121835242A>T	GRCh38
NC_000004.11:g.122756397A>T , CM000666.1:g.122756397A>T	GRCh37
NC_000004.10:g.122975847A>T	NCBI36
NG_009111.1:g.40246T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264499.9:c.1413T>A MANE Select	ENSP00000264499.4:p.Tyr471Ter
ENST00000264499.8:c.1413T>A	ENSP00000264499.4:p.Tyr471Ter
ENST00000506636.1:c.1413T>A	ENSP00000423626.1:p.Tyr471Ter
NM_018190.3:c.1413T>A	NP_060660.2:p.Tyr471Ter
NM_176824.2:c.1413T>A	NP_789794.1:p.Tyr471Ter
XM_005263106.2:c.1416T>A	XP_005263163.1:p.Tyr472Ter
XM_011532079.1:c.1461T>A	XP_011530381.1:p.Tyr487Ter
XM_011532080.1:c.1458T>A	XP_011530382.1:p.Tyr486Ter
XM_011532081.1:c.1461T>A	XP_011530383.1:p.Tyr487Ter
XM_005263106.4:c.1416T>A	XP_005263163.1:p.Tyr472Ter
XM_011532079.3:c.1461T>A	XP_011530381.1:p.Tyr487Ter
XM_011532080.3:c.1458T>A	XP_011530382.1:p.Tyr486Ter
XM_011532081.3:c.1461T>A	XP_011530383.1:p.Tyr487Ter
XM_017008357.2:c.1413T>A	XP_016863846.1:p.Tyr471Ter
XM_017008358.2:c.1416T>A	XP_016863847.1:p.Tyr472Ter
NM_176824.3:c.1413T>A MANE Select	NP_789794.1:p.Tyr471Ter
NM_018190.4:c.1413T>A	NP_060660.2:p.Tyr471Ter