Canonical Allele Identifier: CA245496

Gene: BBS7

Linked Data

• ClinVar Variation Id: 197387
• ClinVar RCV Id: RCV000178402 ; RCV001068885 ; RCV002517733 ; RCV003398895
• dbSNP Id: rs138872188
• ExAC: 4:122782777 T / C
• gnomAD v2: 4-122782777-T-C
• gnomAD v3: 4-121861622-T-C
• gnomAD v4: 4-121861622-T-C
• MyVariant Identifiers: chr4:g.122782777T>C (hg19) ; chr4:g.121861622T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.121861622T>C , CM000666.2:g.121861622T>C	GRCh38
NC_000004.11:g.122782777T>C , CM000666.1:g.122782777T>C	GRCh37
NC_000004.10:g.123002227T>C	NCBI36
NG_009111.1:g.13866A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000264499.9:c.223A>G MANE Select	ENSP00000264499.4:p.Ile75Val
ENST00000264499.8:c.223A>G	ENSP00000264499.4:p.Ile75Val
ENST00000502444.1:n.397A>G
ENST00000505692.1:n.58A>G
ENST00000506636.1:c.223A>G	ENSP00000423626.1:p.Ile75Val
NM_018190.3:c.223A>G	NP_060660.2:p.Ile75Val
NM_176824.2:c.223A>G	NP_789794.1:p.Ile75Val
XM_005263106.2:c.223A>G	XP_005263163.1:p.Ile75Val
XM_011532079.1:c.223A>G	XP_011530381.1:p.Ile75Val
XM_011532080.1:c.223A>G	XP_011530382.1:p.Ile75Val
XM_011532081.1:c.223A>G	XP_011530383.1:p.Ile75Val
XM_005263106.4:c.223A>G	XP_005263163.1:p.Ile75Val
XM_011532079.3:c.223A>G	XP_011530381.1:p.Ile75Val
XM_011532080.3:c.223A>G	XP_011530382.1:p.Ile75Val
XM_011532081.3:c.223A>G	XP_011530383.1:p.Ile75Val
XM_017008357.2:c.223A>G	XP_016863846.1:p.Ile75Val
XM_017008358.2:c.223A>G	XP_016863847.1:p.Ile75Val
NM_176824.3:c.223A>G MANE Select	NP_789794.1:p.Ile75Val
NM_018190.4:c.223A>G	NP_060660.2:p.Ile75Val