Canonical Allele Identifier: CA358054276

Gene: BBS7

Linked Data

• ClinVar Variation Id: 2092676
• ClinVar RCV Id: RCV003018324
• dbSNP Id: rs765240912
• gnomAD v2: 4-122749337-A-G
• gnomAD v4: 4-121828182-A-G
• MyVariant Identifiers: chr4:g.122749337A>G (hg19) ; chr4:g.121828182A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.121828182A>G , CM000666.2:g.121828182A>G	GRCh38
NC_000004.11:g.122749337A>G , CM000666.1:g.122749337A>G	GRCh37
NC_000004.10:g.122968787A>G	NCBI36
NG_009111.1:g.47306T>C
NG_052974.1:g.820T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264499.9:c.1978T>C MANE Select	ENSP00000264499.4:p.Tyr660His
ENST00000264499.8:c.1978T>C	ENSP00000264499.4:p.Tyr660His
ENST00000506636.1:c.1978T>C	ENSP00000423626.1:p.Tyr660His
ENST00000507814.5:c.247T>C	ENSP00000423250.1:p.Tyr83His
NM_018190.3:c.1978T>C	NP_060660.2:p.Tyr660His
NM_176824.2:c.1978T>C	NP_789794.1:p.Tyr660His
XM_005263106.2:c.1981T>C	XP_005263163.1:p.Tyr661His
XM_011532079.1:c.2026T>C	XP_011530381.1:p.Tyr676His
XM_011532080.1:c.2023T>C	XP_011530382.1:p.Tyr675His
XM_011532081.1:c.1861T>C	XP_011530383.1:p.Tyr621His
XM_005263106.4:c.1981T>C	XP_005263163.1:p.Tyr661His
XM_011532079.3:c.2026T>C	XP_011530381.1:p.Tyr676His
XM_011532080.3:c.2023T>C	XP_011530382.1:p.Tyr675His
XM_011532081.3:c.1861T>C	XP_011530383.1:p.Tyr621His
XM_017008357.2:c.1813T>C	XP_016863846.1:p.Tyr605His
XM_017008358.2:c.1816T>C	XP_016863847.1:p.Tyr606His
NM_176824.3:c.1978T>C MANE Select	NP_789794.1:p.Tyr660His
NM_018190.4:c.1978T>C	NP_060660.2:p.Tyr660His