Canonical Allele Identifier: CA358054253

Gene: BBS7

Linked Data

• MyVariant Identifiers: chr4:g.122749328G>T (hg19) ; chr4:g.121828173G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.121828173G>T , CM000666.2:g.121828173G>T	GRCh38
NC_000004.11:g.122749328G>T , CM000666.1:g.122749328G>T	GRCh37
NC_000004.10:g.122968778G>T	NCBI36
NG_009111.1:g.47315C>A
NG_052974.1:g.829C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000264499.9:c.1987C>A MANE Select	ENSP00000264499.4:p.Gln663Lys
ENST00000264499.8:c.1987C>A	ENSP00000264499.4:p.Gln663Lys
ENST00000506636.1:c.1987C>A	ENSP00000423626.1:p.Gln663Lys
ENST00000507814.5:c.256C>A	ENSP00000423250.1:p.Gln86Lys
NM_018190.3:c.1987C>A	NP_060660.2:p.Gln663Lys
NM_176824.2:c.1987C>A	NP_789794.1:p.Gln663Lys
XM_005263106.2:c.1990C>A	XP_005263163.1:p.Gln664Lys
XM_011532079.1:c.2035C>A	XP_011530381.1:p.Gln679Lys
XM_011532080.1:c.2032C>A	XP_011530382.1:p.Gln678Lys
XM_011532081.1:c.1870C>A	XP_011530383.1:p.Gln624Lys
XM_005263106.4:c.1990C>A	XP_005263163.1:p.Gln664Lys
XM_011532079.3:c.2035C>A	XP_011530381.1:p.Gln679Lys
XM_011532080.3:c.2032C>A	XP_011530382.1:p.Gln678Lys
XM_011532081.3:c.1870C>A	XP_011530383.1:p.Gln624Lys
XM_017008357.2:c.1822C>A	XP_016863846.1:p.Gln608Lys
XM_017008358.2:c.1825C>A	XP_016863847.1:p.Gln609Lys
NM_176824.3:c.1987C>A MANE Select	NP_789794.1:p.Gln663Lys
NM_018190.4:c.1987C>A	NP_060660.2:p.Gln663Lys