Canonical Allele Identifier: CA358066067

Gene: BBS7

Linked Data

• ClinVar Variation Id: 1518093
• ClinVar RCV Id: RCV002041266 ; RCV002486746
• dbSNP Id: rs1226167451
• gnomAD v2: 4-122775937-C-T
• gnomAD v3: 4-121854782-C-T
• gnomAD v4: 4-121854782-C-T
• MyVariant Identifiers: chr4:g.122775937C>T (hg19) ; chr4:g.121854782C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.121854782C>T , CM000666.2:g.121854782C>T	GRCh38
NC_000004.11:g.122775937C>T , CM000666.1:g.122775937C>T	GRCh37
NC_000004.10:g.122995387C>T	NCBI36
NG_009111.1:g.20706G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264499.9:c.640G>A MANE Select	ENSP00000264499.4:p.Gly214Arg
ENST00000264499.8:c.640G>A	ENSP00000264499.4:p.Gly214Arg
ENST00000506636.1:c.640G>A	ENSP00000423626.1:p.Gly214Arg
NM_018190.3:c.640G>A	NP_060660.2:p.Gly214Arg
NM_176824.2:c.640G>A	NP_789794.1:p.Gly214Arg
XM_005263106.2:c.643G>A	XP_005263163.1:p.Gly215Arg
XM_011532079.1:c.688G>A	XP_011530381.1:p.Gly230Arg
XM_011532080.1:c.685G>A	XP_011530382.1:p.Gly229Arg
XM_011532081.1:c.688G>A	XP_011530383.1:p.Gly230Arg
XM_005263106.4:c.643G>A	XP_005263163.1:p.Gly215Arg
XM_011532079.3:c.688G>A	XP_011530381.1:p.Gly230Arg
XM_011532080.3:c.685G>A	XP_011530382.1:p.Gly229Arg
XM_011532081.3:c.688G>A	XP_011530383.1:p.Gly230Arg
XM_017008357.2:c.640G>A	XP_016863846.1:p.Gly214Arg
XM_017008358.2:c.643G>A	XP_016863847.1:p.Gly215Arg
NM_176824.3:c.640G>A MANE Select	NP_789794.1:p.Gly214Arg
NM_018190.4:c.640G>A	NP_060660.2:p.Gly214Arg