Canonical Allele Identifier: CA3064060

Gene: BBS7

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.121825962A>G , CM000666.2:g.121825962A>G	GRCh38
NC_000004.11:g.122747117A>G , CM000666.1:g.122747117A>G	GRCh37
NC_000004.10:g.122966567A>G	NCBI36
NG_009111.1:g.49526T>C
NG_052974.1:g.3040T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264499.9:c.2046T>C MANE Select	ENSP00000264499.4:p.Phe682=
ENST00000264499.8:c.2046T>C	ENSP00000264499.4:p.Phe682=
ENST00000507814.5:c.315T>C	ENSP00000423250.1:p.Phe105=
NM_176824.2:c.2046T>C	NP_789794.1:p.Phe682=
XM_005263106.2:c.2049T>C	XP_005263163.1:p.Phe683=
XM_011532079.1:c.2094T>C	XP_011530381.1:p.Phe698=
XM_011532080.1:c.2091T>C	XP_011530382.1:p.Phe697=
XM_011532081.1:c.1929T>C	XP_011530383.1:p.Phe643=
XM_005263106.4:c.2049T>C	XP_005263163.1:p.Phe683=
XM_011532079.3:c.2094T>C	XP_011530381.1:p.Phe698=
XM_011532080.3:c.2091T>C	XP_011530382.1:p.Phe697=
XM_011532081.3:c.1929T>C	XP_011530383.1:p.Phe643=
XM_017008357.2:c.1881T>C	XP_016863846.1:p.Phe627=
XM_017008358.2:c.*2179T>C	XP_016863847.1:n.*2179T>C
NM_176824.3:c.2046T>C MANE Select	NP_789794.1:p.Phe682=