Canonical Allele Identifier: CA248271

Gene: BBS7

Linked Data

• ClinVar Variation Id: 199192
• ClinVar RCV Id: RCV000180708 ; RCV002054156 ; RCV002517766 ; RCV003407670
• dbSNP Id: rs200770952
• ExAC: 4:122770068 C / T
• gnomAD v2: 4-122770068-C-T
• gnomAD v3: 4-121848913-C-T
• gnomAD v4: 4-121848913-C-T
• COSMIC: COSM3781915
• MyVariant Identifiers: chr4:g.122770068C>T (hg19) ; chr4:g.121848913C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.121848913C>T , CM000666.2:g.121848913C>T	GRCh38
NC_000004.11:g.122770068C>T , CM000666.1:g.122770068C>T	GRCh37
NC_000004.10:g.122989518C>T	NCBI36
NG_009111.1:g.26575G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264499.9:c.865G>A MANE Select	ENSP00000264499.4:p.Val289Ile
ENST00000264499.8:c.865G>A	ENSP00000264499.4:p.Val289Ile
ENST00000506636.1:c.865G>A	ENSP00000423626.1:p.Val289Ile
NM_018190.3:c.865G>A	NP_060660.2:p.Val289Ile
NM_176824.2:c.865G>A	NP_789794.1:p.Val289Ile
XM_005263106.2:c.868G>A	XP_005263163.1:p.Val290Ile
XM_011532079.1:c.913G>A	XP_011530381.1:p.Val305Ile
XM_011532080.1:c.910G>A	XP_011530382.1:p.Val304Ile
XM_011532081.1:c.913G>A	XP_011530383.1:p.Val305Ile
XM_005263106.4:c.868G>A	XP_005263163.1:p.Val290Ile
XM_011532079.3:c.913G>A	XP_011530381.1:p.Val305Ile
XM_011532080.3:c.910G>A	XP_011530382.1:p.Val304Ile
XM_011532081.3:c.913G>A	XP_011530383.1:p.Val305Ile
XM_017008357.2:c.865G>A	XP_016863846.1:p.Val289Ile
XM_017008358.2:c.868G>A	XP_016863847.1:p.Val290Ile
NM_176824.3:c.865G>A MANE Select	NP_789794.1:p.Val289Ile
NM_018190.4:c.865G>A	NP_060660.2:p.Val289Ile