Canonical Allele Identifier: CA104766682

Gene: BBS7

Linked Data

• dbSNP Id: rs1002646247
• gnomAD v3: 4-121854749-T-C
• gnomAD v4: 4-121854749-T-C
• MyVariant Identifiers: chr4:g.122775904T>C (hg19) ; chr4:g.121854749T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.121854749T>C , CM000666.2:g.121854749T>C	GRCh38
NC_000004.11:g.122775904T>C , CM000666.1:g.122775904T>C	GRCh37
NC_000004.10:g.122995354T>C	NCBI36
NG_009111.1:g.20739A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264499.9:c.673A>G MANE Select	ENSP00000264499.4:p.Lys225Glu
ENST00000264499.8:c.673A>G	ENSP00000264499.4:p.Lys225Glu
ENST00000506636.1:c.673A>G	ENSP00000423626.1:p.Lys225Glu
NM_018190.3:c.673A>G	NP_060660.2:p.Lys225Glu
NM_176824.2:c.673A>G	NP_789794.1:p.Lys225Glu
XM_005263106.2:c.676A>G	XP_005263163.1:p.Lys226Glu
XM_011532079.1:c.721A>G	XP_011530381.1:p.Lys241Glu
XM_011532080.1:c.718A>G	XP_011530382.1:p.Lys240Glu
XM_011532081.1:c.721A>G	XP_011530383.1:p.Lys241Glu
XM_005263106.4:c.676A>G	XP_005263163.1:p.Lys226Glu
XM_011532079.3:c.721A>G	XP_011530381.1:p.Lys241Glu
XM_011532080.3:c.718A>G	XP_011530382.1:p.Lys240Glu
XM_011532081.3:c.721A>G	XP_011530383.1:p.Lys241Glu
XM_017008357.2:c.673A>G	XP_016863846.1:p.Lys225Glu
XM_017008358.2:c.676A>G	XP_016863847.1:p.Lys226Glu
NM_176824.3:c.673A>G MANE Select	NP_789794.1:p.Lys225Glu
NM_018190.4:c.673A>G	NP_060660.2:p.Lys225Glu