Canonical Allele Identifier: CA358065836

Gene: BBS7

Linked Data

• MyVariant Identifiers: chr4:g.122775898C>T (hg19) ; chr4:g.121854743C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.121854743C>T , CM000666.2:g.121854743C>T	GRCh38
NC_000004.11:g.122775898C>T , CM000666.1:g.122775898C>T	GRCh37
NC_000004.10:g.122995348C>T	NCBI36
NG_009111.1:g.20745G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264499.9:c.679G>A MANE Select	ENSP00000264499.4:p.Val227Ile
ENST00000264499.8:c.679G>A	ENSP00000264499.4:p.Val227Ile
ENST00000506636.1:c.679G>A	ENSP00000423626.1:p.Val227Ile
NM_018190.3:c.679G>A	NP_060660.2:p.Val227Ile
NM_176824.2:c.679G>A	NP_789794.1:p.Val227Ile
XM_005263106.2:c.682G>A	XP_005263163.1:p.Val228Ile
XM_011532079.1:c.727G>A	XP_011530381.1:p.Val243Ile
XM_011532080.1:c.724G>A	XP_011530382.1:p.Val242Ile
XM_011532081.1:c.727G>A	XP_011530383.1:p.Val243Ile
XM_005263106.4:c.682G>A	XP_005263163.1:p.Val228Ile
XM_011532079.3:c.727G>A	XP_011530381.1:p.Val243Ile
XM_011532080.3:c.724G>A	XP_011530382.1:p.Val242Ile
XM_011532081.3:c.727G>A	XP_011530383.1:p.Val243Ile
XM_017008357.2:c.679G>A	XP_016863846.1:p.Val227Ile
XM_017008358.2:c.682G>A	XP_016863847.1:p.Val228Ile
NM_176824.3:c.679G>A MANE Select	NP_789794.1:p.Val227Ile
NM_018190.4:c.679G>A	NP_060660.2:p.Val227Ile