Canonical Allele Identifier: CA3064080

Gene: BBS7

Linked Data

• ClinVar Variation Id: 2573210
• ClinVar RCV Id: RCV003316899 ; RCV003396993
• dbSNP Id: rs757308523
• ExAC: 4:122749336 T / C
• gnomAD v2: 4-122749336-T-C
• gnomAD v4: 4-121828181-T-C
• MyVariant Identifiers: chr4:g.122749336T>C (hg19) ; chr4:g.121828181T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.121828181T>C , CM000666.2:g.121828181T>C	GRCh38
NC_000004.11:g.122749336T>C , CM000666.1:g.122749336T>C	GRCh37
NC_000004.10:g.122968786T>C	NCBI36
NG_009111.1:g.47307A>G
NG_052974.1:g.821A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000264499.9:c.1979A>G MANE Select	ENSP00000264499.4:p.Tyr660Cys
ENST00000264499.8:c.1979A>G	ENSP00000264499.4:p.Tyr660Cys
ENST00000506636.1:c.1979A>G	ENSP00000423626.1:p.Tyr660Cys
ENST00000507814.5:c.248A>G	ENSP00000423250.1:p.Tyr83Cys
NM_018190.3:c.1979A>G	NP_060660.2:p.Tyr660Cys
NM_176824.2:c.1979A>G	NP_789794.1:p.Tyr660Cys
XM_005263106.2:c.1982A>G	XP_005263163.1:p.Tyr661Cys
XM_011532079.1:c.2027A>G	XP_011530381.1:p.Tyr676Cys
XM_011532080.1:c.2024A>G	XP_011530382.1:p.Tyr675Cys
XM_011532081.1:c.1862A>G	XP_011530383.1:p.Tyr621Cys
XM_005263106.4:c.1982A>G	XP_005263163.1:p.Tyr661Cys
XM_011532079.3:c.2027A>G	XP_011530381.1:p.Tyr676Cys
XM_011532080.3:c.2024A>G	XP_011530382.1:p.Tyr675Cys
XM_011532081.3:c.1862A>G	XP_011530383.1:p.Tyr621Cys
XM_017008357.2:c.1814A>G	XP_016863846.1:p.Tyr605Cys
XM_017008358.2:c.1817A>G	XP_016863847.1:p.Tyr606Cys
NM_176824.3:c.1979A>G MANE Select	NP_789794.1:p.Tyr660Cys
NM_018190.4:c.1979A>G	NP_060660.2:p.Tyr660Cys