Canonical Allele Identifier: CA3064438
Gene: BBS7 HGNC NCBI

Linked Data

ClinVar Variation Id: 2634347
ClinVar RCV Id: RCV003392764
dbSNP Id: rs751522255

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.121854761T>A , CM000666.2:g.121854761T>A GRCh38
NC_000004.11:g.122775916T>A , CM000666.1:g.122775916T>A GRCh37
NC_000004.10:g.122995366T>A NCBI36
NG_009111.1:g.20727A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264499.9:c.661A>T MANE Select ENSP00000264499.4:p.Ile221Phe
ENST00000264499.8:c.661A>T ENSP00000264499.4:p.Ile221Phe
ENST00000506636.1:c.661A>T ENSP00000423626.1:p.Ile221Phe
NM_018190.3:c.661A>T NP_060660.2:p.Ile221Phe
NM_176824.2:c.661A>T NP_789794.1:p.Ile221Phe
XM_005263106.2:c.664A>T XP_005263163.1:p.Ile222Phe
XM_011532079.1:c.709A>T XP_011530381.1:p.Ile237Phe
XM_011532080.1:c.706A>T XP_011530382.1:p.Ile236Phe
XM_011532081.1:c.709A>T XP_011530383.1:p.Ile237Phe
XM_005263106.4:c.664A>T XP_005263163.1:p.Ile222Phe
XM_011532079.3:c.709A>T XP_011530381.1:p.Ile237Phe
XM_011532080.3:c.706A>T XP_011530382.1:p.Ile236Phe
XM_011532081.3:c.709A>T XP_011530383.1:p.Ile237Phe
XM_017008357.2:c.661A>T XP_016863846.1:p.Ile221Phe
XM_017008358.2:c.664A>T XP_016863847.1:p.Ile222Phe
NM_176824.3:c.661A>T MANE Select NP_789794.1:p.Ile221Phe
NM_018190.4:c.661A>T NP_060660.2:p.Ile221Phe