Canonical Allele Identifier: CA3064641

Gene: BBS7

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.121870303A>G , CM000666.2:g.121870303A>G	GRCh38
NC_000004.11:g.122791458A>G , CM000666.1:g.122791458A>G	GRCh37
NC_000004.10:g.123010908A>G	NCBI36
NG_009111.1:g.5185T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_176824.3:c.11T>C MANE Select	NP_789794.1:p.Ile4Thr
ENST00000264499.9:c.11T>C MANE Select	ENSP00000264499.4:p.Ile4Thr
NM_018190.3:c.11T>C	NP_060660.2:p.Ile4Thr
NM_018190.4:c.11T>C	NP_060660.2:p.Ile4Thr
NM_176824.2:c.11T>C	NP_789794.1:p.Ile4Thr
ENST00000264499.8:c.11T>C	ENSP00000264499.4:p.Ile4Thr
ENST00000502444.1:n.185T>C
ENST00000506636.1:c.11T>C	ENSP00000423626.1:p.Ile4Thr
XM_005263106.2:c.11T>C	XP_005263163.1:p.Ile4Thr
XM_005263106.4:c.11T>C	XP_005263163.1:p.Ile4Thr
XM_011532079.1:c.11T>C	XP_011530381.1:p.Ile4Thr
XM_011532079.3:c.11T>C	XP_011530381.1:p.Ile4Thr
XM_011532080.1:c.11T>C	XP_011530382.1:p.Ile4Thr
XM_011532080.3:c.11T>C	XP_011530382.1:p.Ile4Thr
XM_011532081.1:c.11T>C	XP_011530383.1:p.Ile4Thr
XM_011532081.3:c.11T>C	XP_011530383.1:p.Ile4Thr
XM_017008357.2:c.11T>C	XP_016863846.1:p.Ile4Thr
XM_017008358.2:c.11T>C	XP_016863847.1:p.Ile4Thr