Canonical Allele Identifier: CA3064081

Gene: BBS7

Linked Data

• dbSNP Id: rs765240912
• ExAC: 4:122749337 A / C
• gnomAD v2: 4-122749337-A-C
• gnomAD v4: 4-121828182-A-C
• MyVariant Identifiers: chr4:g.122749337A>C (hg19) ; chr4:g.121828182A>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264499.9:c.1978T>G MANE Select	ENSP00000264499.4:p.Tyr660Asp
ENST00000264499.8:c.1978T>G	ENSP00000264499.4:p.Tyr660Asp
ENST00000506636.1:c.1978T>G	ENSP00000423626.1:p.Tyr660Asp
ENST00000507814.5:c.247T>G	ENSP00000423250.1:p.Tyr83Asp
NM_018190.3:c.1978T>G	NP_060660.2:p.Tyr660Asp
NM_176824.2:c.1978T>G	NP_789794.1:p.Tyr660Asp
XM_005263106.2:c.1981T>G	XP_005263163.1:p.Tyr661Asp
XM_011532079.1:c.2026T>G	XP_011530381.1:p.Tyr676Asp
XM_011532080.1:c.2023T>G	XP_011530382.1:p.Tyr675Asp
XM_011532081.1:c.1861T>G	XP_011530383.1:p.Tyr621Asp
XM_005263106.4:c.1981T>G	XP_005263163.1:p.Tyr661Asp
XM_011532079.3:c.2026T>G	XP_011530381.1:p.Tyr676Asp
XM_011532080.3:c.2023T>G	XP_011530382.1:p.Tyr675Asp
XM_011532081.3:c.1861T>G	XP_011530383.1:p.Tyr621Asp
XM_017008357.2:c.1813T>G	XP_016863846.1:p.Tyr605Asp
XM_017008358.2:c.1816T>G	XP_016863847.1:p.Tyr606Asp
NM_176824.3:c.1978T>G MANE Select	NP_789794.1:p.Tyr660Asp
NM_018190.4:c.1978T>G	NP_060660.2:p.Tyr660Asp