Canonical Allele Identifier: CA358065951
Gene: BBS7 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.121854762C>G , CM000666.2:g.121854762C>G GRCh38
NC_000004.11:g.122775917C>G , CM000666.1:g.122775917C>G GRCh37
NC_000004.10:g.122995367C>G NCBI36
NG_009111.1:g.20726G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264499.9:c.660G>C MANE Select ENSP00000264499.4:p.Gln220His
ENST00000264499.8:c.660G>C ENSP00000264499.4:p.Gln220His
ENST00000506636.1:c.660G>C ENSP00000423626.1:p.Gln220His
NM_018190.3:c.660G>C NP_060660.2:p.Gln220His
NM_176824.2:c.660G>C NP_789794.1:p.Gln220His
XM_005263106.2:c.663G>C XP_005263163.1:p.Gln221His
XM_011532079.1:c.708G>C XP_011530381.1:p.Gln236His
XM_011532080.1:c.705G>C XP_011530382.1:p.Gln235His
XM_011532081.1:c.708G>C XP_011530383.1:p.Gln236His
XM_005263106.4:c.663G>C XP_005263163.1:p.Gln221His
XM_011532079.3:c.708G>C XP_011530381.1:p.Gln236His
XM_011532080.3:c.705G>C XP_011530382.1:p.Gln235His
XM_011532081.3:c.708G>C XP_011530383.1:p.Gln236His
XM_017008357.2:c.660G>C XP_016863846.1:p.Gln220His
XM_017008358.2:c.663G>C XP_016863847.1:p.Gln221His
NM_176824.3:c.660G>C MANE Select NP_789794.1:p.Gln220His
NM_018190.4:c.660G>C NP_060660.2:p.Gln220His