Canonical Allele Identifier: CA229213

Gene: BBS7

Linked Data

• ClinVar Variation Id: 100893
• ClinVar RCV Id: RCV000087255
• dbSNP Id: rs483352770
• MyVariant Identifiers: chr4:g.122766754A>C (hg19) ; chr4:g.121845599A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.121845599A>C , CM000666.2:g.121845599A>C	GRCh38
NC_000004.11:g.122766754A>C , CM000666.1:g.122766754A>C	GRCh37
NC_000004.10:g.122986204A>C	NCBI36
NG_009111.1:g.29889T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000264499.9:c.1135T>G MANE Select	ENSP00000264499.4:p.Phe379Val
ENST00000264499.8:c.1135T>G	ENSP00000264499.4:p.Phe379Val
ENST00000506636.1:c.1135T>G	ENSP00000423626.1:p.Phe379Val
NM_018190.3:c.1135T>G	NP_060660.2:p.Phe379Val
NM_176824.2:c.1135T>G	NP_789794.1:p.Phe379Val
XM_005263106.2:c.1138T>G	XP_005263163.1:p.Phe380Val
XM_011532079.1:c.1183T>G	XP_011530381.1:p.Phe395Val
XM_011532080.1:c.1180T>G	XP_011530382.1:p.Phe394Val
XM_011532081.1:c.1183T>G	XP_011530383.1:p.Phe395Val
XM_005263106.4:c.1138T>G	XP_005263163.1:p.Phe380Val
XM_011532079.3:c.1183T>G	XP_011530381.1:p.Phe395Val
XM_011532080.3:c.1180T>G	XP_011530382.1:p.Phe394Val
XM_011532081.3:c.1183T>G	XP_011530383.1:p.Phe395Val
XM_017008357.2:c.1135T>G	XP_016863846.1:p.Phe379Val
XM_017008358.2:c.1138T>G	XP_016863847.1:p.Phe380Val
NM_176824.3:c.1135T>G MANE Select	NP_789794.1:p.Phe379Val
NM_018190.4:c.1135T>G	NP_060660.2:p.Phe379Val