Canonical Allele Identifier: CA252534
Gene: BBS7 HGNC NCBI
MyVariant.info:
GRCh38 chr4:g.121854790G>A
GRCh37 chr4:g.122775945G>A
Revel Score:
ENST00000264499 (MANE Select) 0.816
ENST00000506636 0.816
gnomAD v2:
4:122775945 G / A
gnomAD v3:
4:121854790 G / A
gnomAD v4:
chr4-121854790-G-A
Joint Max Group AF 0.00016637 (AMR)
Genomes Max Group AF 0.00026087 (AMR)
Exomes Max Group AF 0.00008862 (AMR)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.121854790G>A , CM000666.2:g.121854790G>A GRCh38
NC_000004.11:g.122775945G>A , CM000666.1:g.122775945G>A GRCh37
NC_000004.10:g.122995395G>A NCBI36
NG_009111.1:g.20698C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264499.9:c.632C>T MANE Select ENSP00000264499.4:p.Thr211Ile
ENST00000264499.8:c.632C>T ENSP00000264499.4:p.Thr211Ile
ENST00000506636.1:c.632C>T ENSP00000423626.1:p.Thr211Ile
NM_018190.3:c.632C>T NP_060660.2:p.Thr211Ile
NM_176824.2:c.632C>T NP_789794.1:p.Thr211Ile
XM_005263106.2:c.635C>T XP_005263163.1:p.Thr212Ile
XM_011532079.1:c.680C>T XP_011530381.1:p.Thr227Ile
XM_011532080.1:c.677C>T XP_011530382.1:p.Thr226Ile
XM_011532081.1:c.680C>T XP_011530383.1:p.Thr227Ile
XM_005263106.4:c.635C>T XP_005263163.1:p.Thr212Ile
XM_011532079.3:c.680C>T XP_011530381.1:p.Thr227Ile
XM_011532080.3:c.677C>T XP_011530382.1:p.Thr226Ile
XM_011532081.3:c.680C>T XP_011530383.1:p.Thr227Ile
XM_017008357.2:c.632C>T XP_016863846.1:p.Thr211Ile
XM_017008358.2:c.635C>T XP_016863847.1:p.Thr212Ile
NM_176824.3:c.632C>T MANE Select NP_789794.1:p.Thr211Ile
NM_018190.4:c.632C>T NP_060660.2:p.Thr211Ile
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