Canonical Allele Identifier: CA3064519

Gene: BBS7

Linked Data

• dbSNP Id: rs762766426
• ExAC: 4:122780289 T / C
• gnomAD v2: 4-122780289-T-C
• gnomAD v4: 4-121859134-T-C
• MyVariant Identifiers: chr4:g.122780289T>C (hg19) ; chr4:g.121859134T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.121859134T>C , CM000666.2:g.121859134T>C	GRCh38
NC_000004.11:g.122780289T>C , CM000666.1:g.122780289T>C	GRCh37
NC_000004.10:g.122999739T>C	NCBI36
NG_009111.1:g.16354A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264499.9:c.386A>G MANE Select	ENSP00000264499.4:p.Tyr129Cys
ENST00000264499.8:c.386A>G	ENSP00000264499.4:p.Tyr129Cys
ENST00000505692.1:n.221A>G
ENST00000506636.1:c.386A>G	ENSP00000423626.1:p.Tyr129Cys
NM_018190.3:c.386A>G	NP_060660.2:p.Tyr129Cys
NM_176824.2:c.386A>G	NP_789794.1:p.Tyr129Cys
XM_005263106.2:c.386A>G	XP_005263163.1:p.Tyr129Cys
XM_011532079.1:c.386A>G	XP_011530381.1:p.Tyr129Cys
XM_011532080.1:c.386A>G	XP_011530382.1:p.Tyr129Cys
XM_011532081.1:c.386A>G	XP_011530383.1:p.Tyr129Cys
XM_005263106.4:c.386A>G	XP_005263163.1:p.Tyr129Cys
XM_011532079.3:c.386A>G	XP_011530381.1:p.Tyr129Cys
XM_011532080.3:c.386A>G	XP_011530382.1:p.Tyr129Cys
XM_011532081.3:c.386A>G	XP_011530383.1:p.Tyr129Cys
XM_017008357.2:c.386A>G	XP_016863846.1:p.Tyr129Cys
XM_017008358.2:c.386A>G	XP_016863847.1:p.Tyr129Cys
NM_176824.3:c.386A>G MANE Select	NP_789794.1:p.Tyr129Cys
NM_018190.4:c.386A>G	NP_060660.2:p.Tyr129Cys