Canonical Allele Identifier: CA358066139

Gene: BBS7

Linked Data

• gnomAD v4: 4-121854793-C-T
• MyVariant Identifiers: chr4:g.122775948C>T (hg19) ; chr4:g.121854793C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.121854793C>T , CM000666.2:g.121854793C>T	GRCh38
NC_000004.11:g.122775948C>T , CM000666.1:g.122775948C>T	GRCh37
NC_000004.10:g.122995398C>T	NCBI36
NG_009111.1:g.20695G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264499.9:c.629G>A MANE Select	ENSP00000264499.4:p.Gly210Glu
ENST00000264499.8:c.629G>A	ENSP00000264499.4:p.Gly210Glu
ENST00000506636.1:c.629G>A	ENSP00000423626.1:p.Gly210Glu
NM_018190.3:c.629G>A	NP_060660.2:p.Gly210Glu
NM_176824.2:c.629G>A	NP_789794.1:p.Gly210Glu
XM_005263106.2:c.632G>A	XP_005263163.1:p.Gly211Glu
XM_011532079.1:c.677G>A	XP_011530381.1:p.Gly226Glu
XM_011532080.1:c.674G>A	XP_011530382.1:p.Gly225Glu
XM_011532081.1:c.677G>A	XP_011530383.1:p.Gly226Glu
XM_005263106.4:c.632G>A	XP_005263163.1:p.Gly211Glu
XM_011532079.3:c.677G>A	XP_011530381.1:p.Gly226Glu
XM_011532080.3:c.674G>A	XP_011530382.1:p.Gly225Glu
XM_011532081.3:c.677G>A	XP_011530383.1:p.Gly226Glu
XM_017008357.2:c.629G>A	XP_016863846.1:p.Gly210Glu
XM_017008358.2:c.632G>A	XP_016863847.1:p.Gly211Glu
NM_176824.3:c.629G>A MANE Select	NP_789794.1:p.Gly210Glu
NM_018190.4:c.629G>A	NP_060660.2:p.Gly210Glu