Canonical Allele Identifier: CA3064285

Gene: BBS7

Linked Data

• ClinVar Variation Id: 531839
• ClinVar RCV Id: RCV001083688 ; RCV000762107 ; RCV001144798
• dbSNP Id: rs111442398
• ExAC: 4:122765152 T / C
• gnomAD v2: 4-122765152-T-C
• gnomAD v3: 4-121843997-T-C
• gnomAD v4: 4-121843997-T-C
• COSMIC: COSM238948
• MyVariant Identifiers: chr4:g.122765152T>C (hg19) ; chr4:g.121843997T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.121843997T>C , CM000666.2:g.121843997T>C	GRCh38
NC_000004.11:g.122765152T>C , CM000666.1:g.122765152T>C	GRCh37
NC_000004.10:g.122984602T>C	NCBI36
NG_009111.1:g.31491A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264499.9:c.1235A>G MANE Select	ENSP00000264499.4:p.Asp412Gly
ENST00000264499.8:c.1235A>G	ENSP00000264499.4:p.Asp412Gly
ENST00000506636.1:c.1235A>G	ENSP00000423626.1:p.Asp412Gly
NM_018190.3:c.1235A>G	NP_060660.2:p.Asp412Gly
NM_176824.2:c.1235A>G	NP_789794.1:p.Asp412Gly
XM_005263106.2:c.1238A>G	XP_005263163.1:p.Asp413Gly
XM_011532079.1:c.1283A>G	XP_011530381.1:p.Asp428Gly
XM_011532080.1:c.1280A>G	XP_011530382.1:p.Asp427Gly
XM_011532081.1:c.1283A>G	XP_011530383.1:p.Asp428Gly
XM_005263106.4:c.1238A>G	XP_005263163.1:p.Asp413Gly
XM_011532079.3:c.1283A>G	XP_011530381.1:p.Asp428Gly
XM_011532080.3:c.1280A>G	XP_011530382.1:p.Asp427Gly
XM_011532081.3:c.1283A>G	XP_011530383.1:p.Asp428Gly
XM_017008357.2:c.1235A>G	XP_016863846.1:p.Asp412Gly
XM_017008358.2:c.1238A>G	XP_016863847.1:p.Asp413Gly
NM_176824.3:c.1235A>G MANE Select	NP_789794.1:p.Asp412Gly
NM_018190.4:c.1235A>G	NP_060660.2:p.Asp412Gly