Canonical Allele Identifier: CA233521

Gene: BBS7

Linked Data

• ClinVar Variation Id: 166738
• ClinVar RCV Id: RCV000152845 ; RCV001384254 ; RCV002250576
• dbSNP Id: rs727503821
• ExAC: 4:122774232 C / T
• gnomAD v2: 4-122774232-C-T
• gnomAD v3: 4-121853077-C-T
• gnomAD v4: 4-121853077-C-T
• COSMIC: COSM5626869
• MyVariant Identifiers: chr4:g.122774232C>T (hg19) ; chr4:g.121853077C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.121853077C>T , CM000666.2:g.121853077C>T	GRCh38
NC_000004.11:g.122774232C>T , CM000666.1:g.122774232C>T	GRCh37
NC_000004.10:g.122993682C>T	NCBI36
NG_009111.1:g.22411G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264499.9:c.728G>A MANE Select	ENSP00000264499.4:p.Cys243Tyr
ENST00000264499.8:c.728G>A	ENSP00000264499.4:p.Cys243Tyr
ENST00000506636.1:c.728G>A	ENSP00000423626.1:p.Cys243Tyr
NM_018190.3:c.728G>A	NP_060660.2:p.Cys243Tyr
NM_176824.2:c.728G>A	NP_789794.1:p.Cys243Tyr
XM_005263106.2:c.731G>A	XP_005263163.1:p.Cys244Tyr
XM_011532079.1:c.776G>A	XP_011530381.1:p.Cys259Tyr
XM_011532080.1:c.773G>A	XP_011530382.1:p.Cys258Tyr
XM_011532081.1:c.776G>A	XP_011530383.1:p.Cys259Tyr
XM_005263106.4:c.731G>A	XP_005263163.1:p.Cys244Tyr
XM_011532079.3:c.776G>A	XP_011530381.1:p.Cys259Tyr
XM_011532080.3:c.773G>A	XP_011530382.1:p.Cys258Tyr
XM_011532081.3:c.776G>A	XP_011530383.1:p.Cys259Tyr
XM_017008357.2:c.728G>A	XP_016863846.1:p.Cys243Tyr
XM_017008358.2:c.731G>A	XP_016863847.1:p.Cys244Tyr
NM_176824.3:c.728G>A MANE Select	NP_789794.1:p.Cys243Tyr
NM_018190.4:c.728G>A	NP_060660.2:p.Cys243Tyr