Canonical Allele Identifier: CA3064443

Gene: BBS7

Linked Data

• ClinVar Variation Id: 1315298
• ClinVar RCV Id: RCV002540594 ; RCV001774548 ; RCV002488603
• dbSNP Id: rs370510563
• ExAC: 4:122775927 G / A
• gnomAD v2: 4-122775927-G-A
• gnomAD v3: 4-121854772-G-A
• gnomAD v4: 4-121854772-G-A
• MyVariant Identifiers: chr4:g.122775927G>A (hg19) ; chr4:g.121854772G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.121854772G>A , CM000666.2:g.121854772G>A	GRCh38
NC_000004.11:g.122775927G>A , CM000666.1:g.122775927G>A	GRCh37
NC_000004.10:g.122995377G>A	NCBI36
NG_009111.1:g.20716C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264499.9:c.650C>T MANE Select	ENSP00000264499.4:p.Ala217Val
ENST00000264499.8:c.650C>T	ENSP00000264499.4:p.Ala217Val
ENST00000506636.1:c.650C>T	ENSP00000423626.1:p.Ala217Val
NM_018190.3:c.650C>T	NP_060660.2:p.Ala217Val
NM_176824.2:c.650C>T	NP_789794.1:p.Ala217Val
XM_005263106.2:c.653C>T	XP_005263163.1:p.Ala218Val
XM_011532079.1:c.698C>T	XP_011530381.1:p.Ala233Val
XM_011532080.1:c.695C>T	XP_011530382.1:p.Ala232Val
XM_011532081.1:c.698C>T	XP_011530383.1:p.Ala233Val
XM_005263106.4:c.653C>T	XP_005263163.1:p.Ala218Val
XM_011532079.3:c.698C>T	XP_011530381.1:p.Ala233Val
XM_011532080.3:c.695C>T	XP_011530382.1:p.Ala232Val
XM_011532081.3:c.698C>T	XP_011530383.1:p.Ala233Val
XM_017008357.2:c.650C>T	XP_016863846.1:p.Ala217Val
XM_017008358.2:c.653C>T	XP_016863847.1:p.Ala218Val
NM_176824.3:c.650C>T MANE Select	NP_789794.1:p.Ala217Val
NM_018190.4:c.650C>T	NP_060660.2:p.Ala217Val