Canonical Allele Identifier: CA358054261

Gene: BBS7

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264499.9:c.1984A>T MANE Select	ENSP00000264499.4:p.Lys662Ter
ENST00000264499.8:c.1984A>T	ENSP00000264499.4:p.Lys662Ter
ENST00000506636.1:c.1984A>T	ENSP00000423626.1:p.Lys662Ter
ENST00000507814.5:c.253A>T	ENSP00000423250.1:p.Lys85Ter
NM_018190.3:c.1984A>T	NP_060660.2:p.Lys662Ter
NM_176824.2:c.1984A>T	NP_789794.1:p.Lys662Ter
XM_005263106.2:c.1987A>T	XP_005263163.1:p.Lys663Ter
XM_011532079.1:c.2032A>T	XP_011530381.1:p.Lys678Ter
XM_011532080.1:c.2029A>T	XP_011530382.1:p.Lys677Ter
XM_011532081.1:c.1867A>T	XP_011530383.1:p.Lys623Ter
XM_005263106.4:c.1987A>T	XP_005263163.1:p.Lys663Ter
XM_011532079.3:c.2032A>T	XP_011530381.1:p.Lys678Ter
XM_011532080.3:c.2029A>T	XP_011530382.1:p.Lys677Ter
XM_011532081.3:c.1867A>T	XP_011530383.1:p.Lys623Ter
XM_017008357.2:c.1819A>T	XP_016863846.1:p.Lys607Ter
XM_017008358.2:c.1822A>T	XP_016863847.1:p.Lys608Ter
NM_176824.3:c.1984A>T MANE Select	NP_789794.1:p.Lys662Ter
NM_018190.4:c.1984A>T	NP_060660.2:p.Lys662Ter