Canonical Allele Identifier: CA358065670

Gene: BBS7

Linked Data

• MyVariant Identifiers: chr4:g.122775878T>G (hg19) ; chr4:g.121854723T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.121854723T>G , CM000666.2:g.121854723T>G	GRCh38
NC_000004.11:g.122775878T>G , CM000666.1:g.122775878T>G	GRCh37
NC_000004.10:g.122995328T>G	NCBI36
NG_009111.1:g.20765A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264499.9:c.699A>C MANE Select	ENSP00000264499.4:p.Gln233His
ENST00000264499.8:c.699A>C	ENSP00000264499.4:p.Gln233His
ENST00000506636.1:c.699A>C	ENSP00000423626.1:p.Gln233His
NM_018190.3:c.699A>C	NP_060660.2:p.Gln233His
NM_176824.2:c.699A>C	NP_789794.1:p.Gln233His
XM_005263106.2:c.702A>C	XP_005263163.1:p.Gln234His
XM_011532079.1:c.747A>C	XP_011530381.1:p.Gln249His
XM_011532080.1:c.744A>C	XP_011530382.1:p.Gln248His
XM_011532081.1:c.747A>C	XP_011530383.1:p.Gln249His
XM_005263106.4:c.702A>C	XP_005263163.1:p.Gln234His
XM_011532079.3:c.747A>C	XP_011530381.1:p.Gln249His
XM_011532080.3:c.744A>C	XP_011530382.1:p.Gln248His
XM_011532081.3:c.747A>C	XP_011530383.1:p.Gln249His
XM_017008357.2:c.699A>C	XP_016863846.1:p.Gln233His
XM_017008358.2:c.702A>C	XP_016863847.1:p.Gln234His
NM_176824.3:c.699A>C MANE Select	NP_789794.1:p.Gln233His
NM_018190.4:c.699A>C	NP_060660.2:p.Gln233His