Canonical Allele Identifier: CA358066143

Gene: BBS7

Linked Data

• MyVariant Identifiers: chr4:g.122775949C>T (hg19) ; chr4:g.121854794C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.121854794C>T , CM000666.2:g.121854794C>T	GRCh38
NC_000004.11:g.122775949C>T , CM000666.1:g.122775949C>T	GRCh37
NC_000004.10:g.122995399C>T	NCBI36
NG_009111.1:g.20694G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264499.9:c.628G>A MANE Select	ENSP00000264499.4:p.Gly210Arg
ENST00000264499.8:c.628G>A	ENSP00000264499.4:p.Gly210Arg
ENST00000506636.1:c.628G>A	ENSP00000423626.1:p.Gly210Arg
NM_018190.3:c.628G>A	NP_060660.2:p.Gly210Arg
NM_176824.2:c.628G>A	NP_789794.1:p.Gly210Arg
XM_005263106.2:c.631G>A	XP_005263163.1:p.Gly211Arg
XM_011532079.1:c.676G>A	XP_011530381.1:p.Gly226Arg
XM_011532080.1:c.673G>A	XP_011530382.1:p.Gly225Arg
XM_011532081.1:c.676G>A	XP_011530383.1:p.Gly226Arg
XM_005263106.4:c.631G>A	XP_005263163.1:p.Gly211Arg
XM_011532079.3:c.676G>A	XP_011530381.1:p.Gly226Arg
XM_011532080.3:c.673G>A	XP_011530382.1:p.Gly225Arg
XM_011532081.3:c.676G>A	XP_011530383.1:p.Gly226Arg
XM_017008357.2:c.628G>A	XP_016863846.1:p.Gly210Arg
XM_017008358.2:c.631G>A	XP_016863847.1:p.Gly211Arg
NM_176824.3:c.628G>A MANE Select	NP_789794.1:p.Gly210Arg
NM_018190.4:c.628G>A	NP_060660.2:p.Gly210Arg