Canonical Allele Identifier: CA252533

Gene: BBS7

Linked Data

• ClinVar Variation Id: 3015
• ClinVar RCV Id: RCV000003151 ; RCV001091375 ; RCV001240994 ; RCV003964791
• dbSNP Id: rs119466001
• ExAC: 4:122768628 T / C
• gnomAD v2: 4-122768628-T-C
• gnomAD v3: 4-121847473-T-C
• gnomAD v4: 4-121847473-T-C
• MyVariant Identifiers: chr4:g.122768628T>C (hg19) ; chr4:g.121847473T>C (hg38)
• PubMed: PMID:12567324

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.121847473T>C , CM000666.2:g.121847473T>C	GRCh38
NC_000004.11:g.122768628T>C , CM000666.1:g.122768628T>C	GRCh37
NC_000004.10:g.122988078T>C	NCBI36
NG_009111.1:g.28015A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264499.9:c.968A>G MANE Select	ENSP00000264499.4:p.His323Arg
ENST00000264499.8:c.968A>G	ENSP00000264499.4:p.His323Arg
ENST00000506636.1:c.968A>G	ENSP00000423626.1:p.His323Arg
NM_018190.3:c.968A>G	NP_060660.2:p.His323Arg
NM_176824.2:c.968A>G	NP_789794.1:p.His323Arg
XM_005263106.2:c.971A>G	XP_005263163.1:p.His324Arg
XM_011532079.1:c.1016A>G	XP_011530381.1:p.His339Arg
XM_011532080.1:c.1013A>G	XP_011530382.1:p.His338Arg
XM_011532081.1:c.1016A>G	XP_011530383.1:p.His339Arg
XM_005263106.4:c.971A>G	XP_005263163.1:p.His324Arg
XM_011532079.3:c.1016A>G	XP_011530381.1:p.His339Arg
XM_011532080.3:c.1013A>G	XP_011530382.1:p.His338Arg
XM_011532081.3:c.1016A>G	XP_011530383.1:p.His339Arg
XM_017008357.2:c.968A>G	XP_016863846.1:p.His323Arg
XM_017008358.2:c.971A>G	XP_016863847.1:p.His324Arg
NM_176824.3:c.968A>G MANE Select	NP_789794.1:p.His323Arg
NM_018190.4:c.968A>G	NP_060660.2:p.His323Arg