Canonical Allele Identifier: CA3064285
Gene: BBS7 HGNC NCBI
COSMIC:
COSM238948
MyVariant.info:
GRCh38 chr4:g.121843997T>C
GRCh37 chr4:g.122765152T>C
Revel Score:
ENST00000264499 (MANE Select) 0.781
ENST00000506636 0.781
gnomAD v2:
4:122765152 T / C
gnomAD v3:
4:121843997 T / C
gnomAD v4:
chr4-121843997-T-C
Joint Max Group AF 0.00233031 (NFE)
Genomes Max Group AF 0.00209599 (NFE)
Exomes Max Group AF 0.00232809 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.121843997T>C , CM000666.2:g.121843997T>C GRCh38
NC_000004.11:g.122765152T>C , CM000666.1:g.122765152T>C GRCh37
NC_000004.10:g.122984602T>C NCBI36
NG_009111.1:g.31491A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000264499.9:c.1235A>G MANE Select ENSP00000264499.4:p.Asp412Gly
ENST00000264499.8:c.1235A>G ENSP00000264499.4:p.Asp412Gly
ENST00000506636.1:c.1235A>G ENSP00000423626.1:p.Asp412Gly
NM_018190.3:c.1235A>G NP_060660.2:p.Asp412Gly
NM_176824.2:c.1235A>G NP_789794.1:p.Asp412Gly
XM_005263106.2:c.1238A>G XP_005263163.1:p.Asp413Gly
XM_011532079.1:c.1283A>G XP_011530381.1:p.Asp428Gly
XM_011532080.1:c.1280A>G XP_011530382.1:p.Asp427Gly
XM_011532081.1:c.1283A>G XP_011530383.1:p.Asp428Gly
XM_005263106.4:c.1238A>G XP_005263163.1:p.Asp413Gly
XM_011532079.3:c.1283A>G XP_011530381.1:p.Asp428Gly
XM_011532080.3:c.1280A>G XP_011530382.1:p.Asp427Gly
XM_011532081.3:c.1283A>G XP_011530383.1:p.Asp428Gly
XM_017008357.2:c.1235A>G XP_016863846.1:p.Asp412Gly
XM_017008358.2:c.1238A>G XP_016863847.1:p.Asp413Gly
NM_176824.3:c.1235A>G MANE Select NP_789794.1:p.Asp412Gly
NM_018190.4:c.1235A>G NP_060660.2:p.Asp412Gly
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