Canonical Allele Identifier: CA248271
Gene: BBS7 HGNC NCBI
MyVariant.info:
GRCh38 chr4:g.121848913C>T
GRCh37 chr4:g.122770068C>T
Revel Score:
ENST00000264499 (MANE Select) 0.098
ENST00000506636 0.098
gnomAD v2:
4:122770068 C / T
gnomAD v3:
4:121848913 C / T
gnomAD v4:
chr4-121848913-C-T
Joint Max Group AF 0.00019903 (SAS)
Genomes Max Group AF 0.00006825 (EAS)
Exomes Max Group AF 0.00021109 (SAS)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.121848913C>T , CM000666.2:g.121848913C>T GRCh38
NC_000004.11:g.122770068C>T , CM000666.1:g.122770068C>T GRCh37
NC_000004.10:g.122989518C>T NCBI36
NG_009111.1:g.26575G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264499.9:c.865G>A MANE Select ENSP00000264499.4:p.Val289Ile
ENST00000264499.8:c.865G>A ENSP00000264499.4:p.Val289Ile
ENST00000506636.1:c.865G>A ENSP00000423626.1:p.Val289Ile
NM_018190.3:c.865G>A NP_060660.2:p.Val289Ile
NM_176824.2:c.865G>A NP_789794.1:p.Val289Ile
XM_005263106.2:c.868G>A XP_005263163.1:p.Val290Ile
XM_011532079.1:c.913G>A XP_011530381.1:p.Val305Ile
XM_011532080.1:c.910G>A XP_011530382.1:p.Val304Ile
XM_011532081.1:c.913G>A XP_011530383.1:p.Val305Ile
XM_005263106.4:c.868G>A XP_005263163.1:p.Val290Ile
XM_011532079.3:c.913G>A XP_011530381.1:p.Val305Ile
XM_011532080.3:c.910G>A XP_011530382.1:p.Val304Ile
XM_011532081.3:c.913G>A XP_011530383.1:p.Val305Ile
XM_017008357.2:c.865G>A XP_016863846.1:p.Val289Ile
XM_017008358.2:c.868G>A XP_016863847.1:p.Val290Ile
NM_176824.3:c.865G>A MANE Select NP_789794.1:p.Val289Ile
NM_018190.4:c.865G>A NP_060660.2:p.Val289Ile
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