Canonical Allele Identifier: CA3064096

Gene: BBS7

Linked Data

• ClinVar Variation Id: 262922
• ClinVar RCV Id: RCV000250259 ; RCV000356781 ; RCV000709670 ; RCV001520352 ; RCV001689948
• dbSNP Id: rs2706793
• ExAC: 4:122749436 G / T
• gnomAD v2: 4-122749436-G-T
• gnomAD v3: 4-121828281-G-T
• gnomAD v4: 4-121828281-G-T
• MyVariant Identifiers: chr4:g.122749436G>T (hg19) ; chr4:g.121828281G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.121828281G>T , CM000666.2:g.121828281G>T	GRCh38
NC_000004.11:g.122749436G>T , CM000666.1:g.122749436G>T	GRCh37
NC_000004.10:g.122968886G>T	NCBI36
NG_009111.1:g.47207C>A
NG_052974.1:g.721C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264499.9:c.1891-12C>A MANE Select	ENSP00000264499.4:n.1891-12C>A
ENST00000264499.8:c.1891-12C>A	ENSP00000264499.4:n.1891-12C>A
ENST00000506636.1:c.1891-12C>A	ENSP00000423626.1:n.1891-12C>A
ENST00000507814.5:c.160-12C>A	ENSP00000423250.1:n.160-12C>A
NM_018190.3:c.1891-12C>A	NP_060660.2:n.1891-12C>A
NM_176824.2:c.1891-12C>A	NP_789794.1:n.1891-12C>A
XM_005263106.2:c.1894-12C>A	XP_005263163.1:n.1894-12C>A
XM_011532079.1:c.1939-12C>A	XP_011530381.1:n.1939-12C>A
XM_011532080.1:c.1936-12C>A	XP_011530382.1:n.1936-12C>A
XM_011532081.1:c.1774-12C>A	XP_011530383.1:n.1774-12C>A
XM_005263106.4:c.1894-12C>A	XP_005263163.1:n.1894-12C>A
XM_011532079.3:c.1939-12C>A	XP_011530381.1:n.1939-12C>A
XM_011532080.3:c.1936-12C>A	XP_011530382.1:n.1936-12C>A
XM_011532081.3:c.1774-12C>A	XP_011530383.1:n.1774-12C>A
XM_017008357.2:c.1726-12C>A	XP_016863846.1:n.1726-12C>A
XM_017008358.2:c.1729-12C>A	XP_016863847.1:n.1729-12C>A
NM_176824.3:c.1891-12C>A MANE Select	NP_789794.1:n.1891-12C>A
NM_018190.4:c.1891-12C>A	NP_060660.2:n.1891-12C>A