Canonical Allele Identifier: CA358054263

Gene: BBS7

Linked Data

• MyVariant Identifiers: chr4:g.122749331T>C (hg19) ; chr4:g.121828176T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.121828176T>C , CM000666.2:g.121828176T>C	GRCh38
NC_000004.11:g.122749331T>C , CM000666.1:g.122749331T>C	GRCh37
NC_000004.10:g.122968781T>C	NCBI36
NG_009111.1:g.47312A>G
NG_052974.1:g.826A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264499.9:c.1984A>G MANE Select	ENSP00000264499.4:p.Lys662Glu
ENST00000264499.8:c.1984A>G	ENSP00000264499.4:p.Lys662Glu
ENST00000506636.1:c.1984A>G	ENSP00000423626.1:p.Lys662Glu
ENST00000507814.5:c.253A>G	ENSP00000423250.1:p.Lys85Glu
NM_018190.3:c.1984A>G	NP_060660.2:p.Lys662Glu
NM_176824.2:c.1984A>G	NP_789794.1:p.Lys662Glu
XM_005263106.2:c.1987A>G	XP_005263163.1:p.Lys663Glu
XM_011532079.1:c.2032A>G	XP_011530381.1:p.Lys678Glu
XM_011532080.1:c.2029A>G	XP_011530382.1:p.Lys677Glu
XM_011532081.1:c.1867A>G	XP_011530383.1:p.Lys623Glu
XM_005263106.4:c.1987A>G	XP_005263163.1:p.Lys663Glu
XM_011532079.3:c.2032A>G	XP_011530381.1:p.Lys678Glu
XM_011532080.3:c.2029A>G	XP_011530382.1:p.Lys677Glu
XM_011532081.3:c.1867A>G	XP_011530383.1:p.Lys623Glu
XM_017008357.2:c.1819A>G	XP_016863846.1:p.Lys607Glu
XM_017008358.2:c.1822A>G	XP_016863847.1:p.Lys608Glu
NM_176824.3:c.1984A>G MANE Select	NP_789794.1:p.Lys662Glu
NM_018190.4:c.1984A>G	NP_060660.2:p.Lys662Glu