Canonical Allele Identifier: CA358066159
Gene: BBS7 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.121854798C>G , CM000666.2:g.121854798C>G GRCh38
NC_000004.11:g.122775953C>G , CM000666.1:g.122775953C>G GRCh37
NC_000004.10:g.122995403C>G NCBI36
NG_009111.1:g.20690G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264499.9:c.624G>C MANE Select ENSP00000264499.4:p.Leu208Phe
ENST00000264499.8:c.624G>C ENSP00000264499.4:p.Leu208Phe
ENST00000506636.1:c.624G>C ENSP00000423626.1:p.Leu208Phe
NM_018190.3:c.624G>C NP_060660.2:p.Leu208Phe
NM_176824.2:c.624G>C NP_789794.1:p.Leu208Phe
XM_005263106.2:c.627G>C XP_005263163.1:p.Leu209Phe
XM_011532079.1:c.672G>C XP_011530381.1:p.Leu224Phe
XM_011532080.1:c.669G>C XP_011530382.1:p.Leu223Phe
XM_011532081.1:c.672G>C XP_011530383.1:p.Leu224Phe
XM_005263106.4:c.627G>C XP_005263163.1:p.Leu209Phe
XM_011532079.3:c.672G>C XP_011530381.1:p.Leu224Phe
XM_011532080.3:c.669G>C XP_011530382.1:p.Leu223Phe
XM_011532081.3:c.672G>C XP_011530383.1:p.Leu224Phe
XM_017008357.2:c.624G>C XP_016863846.1:p.Leu208Phe
XM_017008358.2:c.627G>C XP_016863847.1:p.Leu209Phe
NM_176824.3:c.624G>C MANE Select NP_789794.1:p.Leu208Phe
NM_018190.4:c.624G>C NP_060660.2:p.Leu208Phe