Canonical Allele Identifier: CA3064214

Gene: BBS7

Linked Data

• ClinVar Variation Id: 347482
• ClinVar RCV Id: RCV000330267 ; RCV000435007 ; RCV000709647 ; RCV001094938 ; RCV001700075
• dbSNP Id: rs114718913
• ExAC: 4:122756305 T / C
• gnomAD v2: 4-122756305-T-C
• gnomAD v3: 4-121835150-T-C
• gnomAD v4: 4-121835150-T-C
• MyVariant Identifiers: chr4:g.122756305T>C (hg19) ; chr4:g.121835150T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.121835150T>C , CM000666.2:g.121835150T>C	GRCh38
NC_000004.11:g.122756305T>C , CM000666.1:g.122756305T>C	GRCh37
NC_000004.10:g.122975755T>C	NCBI36
NG_009111.1:g.40338A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264499.9:c.1505A>G MANE Select	ENSP00000264499.4:p.His502Arg
ENST00000264499.8:c.1505A>G	ENSP00000264499.4:p.His502Arg
ENST00000506636.1:c.1505A>G	ENSP00000423626.1:p.His502Arg
NM_018190.3:c.1505A>G	NP_060660.2:p.His502Arg
NM_176824.2:c.1505A>G	NP_789794.1:p.His502Arg
XM_005263106.2:c.1508A>G	XP_005263163.1:p.His503Arg
XM_011532079.1:c.1553A>G	XP_011530381.1:p.His518Arg
XM_011532080.1:c.1550A>G	XP_011530382.1:p.His517Arg
XM_011532081.1:c.1553A>G	XP_011530383.1:p.His518Arg
XM_005263106.4:c.1508A>G	XP_005263163.1:p.His503Arg
XM_011532079.3:c.1553A>G	XP_011530381.1:p.His518Arg
XM_011532080.3:c.1550A>G	XP_011530382.1:p.His517Arg
XM_011532081.3:c.1553A>G	XP_011530383.1:p.His518Arg
XM_017008357.2:c.1505A>G	XP_016863846.1:p.His502Arg
XM_017008358.2:c.1508A>G	XP_016863847.1:p.His503Arg
NM_176824.3:c.1505A>G MANE Select	NP_789794.1:p.His502Arg
NM_018190.4:c.1505A>G	NP_060660.2:p.His502Arg