Canonical Allele Identifier: CA239398
Gene: BBS7 HGNC NCBI
MyVariant.info:
GRCh38 chr4:g.121847404C>T
GRCh37 chr4:g.122768559C>T
Revel Score:
ENST00000264499 (MANE Select) 0.533
ENST00000506636 0.533
gnomAD v2:
4:122768559 C / T
gnomAD v3:
4:121847404 C / T
gnomAD v4:
chr4-121847404-C-T
Joint Max Group AF 0.00002557 (AFR)
Genomes Max Group AF 0.00003253 (AFR)
Exomes Max Group AF 0.00001585 (SAS)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.121847404C>T , CM000666.2:g.121847404C>T GRCh38
NC_000004.11:g.122768559C>T , CM000666.1:g.122768559C>T GRCh37
NC_000004.10:g.122988009C>T NCBI36
NG_009111.1:g.28084G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264499.9:c.1037G>A MANE Select ENSP00000264499.4:p.Arg346Gln
ENST00000264499.8:c.1037G>A ENSP00000264499.4:p.Arg346Gln
ENST00000506636.1:c.1037G>A ENSP00000423626.1:p.Arg346Gln
NM_018190.3:c.1037G>A NP_060660.2:p.Arg346Gln
NM_176824.2:c.1037G>A NP_789794.1:p.Arg346Gln
XM_005263106.2:c.1040G>A XP_005263163.1:p.Arg347Gln
XM_011532079.1:c.1085G>A XP_011530381.1:p.Arg362Gln
XM_011532080.1:c.1082G>A XP_011530382.1:p.Arg361Gln
XM_011532081.1:c.1085G>A XP_011530383.1:p.Arg362Gln
XM_005263106.4:c.1040G>A XP_005263163.1:p.Arg347Gln
XM_011532079.3:c.1085G>A XP_011530381.1:p.Arg362Gln
XM_011532080.3:c.1082G>A XP_011530382.1:p.Arg361Gln
XM_011532081.3:c.1085G>A XP_011530383.1:p.Arg362Gln
XM_017008357.2:c.1037G>A XP_016863846.1:p.Arg346Gln
XM_017008358.2:c.1040G>A XP_016863847.1:p.Arg347Gln
NM_176824.3:c.1037G>A MANE Select NP_789794.1:p.Arg346Gln
NM_018190.4:c.1037G>A NP_060660.2:p.Arg346Gln
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