Canonical Allele Identifier: CA440922786

Gene: BBS7

Linked Data

• MyVariant Identifiers: chr4:g.122775896T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.121854741T>C , CM000666.2:g.121854741T>C	GRCh38
NC_000004.11:g.122775896T>C , CM000666.1:g.122775896T>C	GRCh37
NC_000004.10:g.122995346T>C	NCBI36
NG_009111.1:g.20747A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264499.9:c.681A>G MANE Select	ENSP00000264499.4:p.Val227=
ENST00000264499.8:c.681A>G	ENSP00000264499.4:p.Val227=
ENST00000506636.1:c.681A>G	ENSP00000423626.1:p.Val227=
NM_018190.3:c.681A>G	NP_060660.2:p.Val227=
NM_176824.2:c.681A>G	NP_789794.1:p.Val227=
XM_005263106.2:c.684A>G	XP_005263163.1:p.Val228=
XM_011532079.1:c.729A>G	XP_011530381.1:p.Val243=
XM_011532080.1:c.726A>G	XP_011530382.1:p.Val242=
XM_011532081.1:c.729A>G	XP_011530383.1:p.Val243=
XM_005263106.4:c.684A>G	XP_005263163.1:p.Val228=
XM_011532079.3:c.729A>G	XP_011530381.1:p.Val243=
XM_011532080.3:c.726A>G	XP_011530382.1:p.Val242=
XM_011532081.3:c.729A>G	XP_011530383.1:p.Val243=
XM_017008357.2:c.681A>G	XP_016863846.1:p.Val227=
XM_017008358.2:c.684A>G	XP_016863847.1:p.Val228=
NM_176824.3:c.681A>G MANE Select	NP_789794.1:p.Val227=
NM_018190.4:c.681A>G	NP_060660.2:p.Val227=