Canonical Allele Identifier: CA440912045

Gene: BBS7

Linked Data

• ClinVar Variation Id: 2786040
• ClinVar RCV Id: RCV003633863
• gnomAD v4: 4-121859139-G-A
• MyVariant Identifiers: chr4:g.122780294G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.121859139G>A , CM000666.2:g.121859139G>A	GRCh38
NC_000004.11:g.122780294G>A , CM000666.1:g.122780294G>A	GRCh37
NC_000004.10:g.122999744G>A	NCBI36
NG_009111.1:g.16349C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000264499.9:c.381C>T MANE Select	ENSP00000264499.4:p.Tyr127=
ENST00000264499.8:c.381C>T	ENSP00000264499.4:p.Tyr127=
ENST00000505692.1:n.216C>T
ENST00000506636.1:c.381C>T	ENSP00000423626.1:p.Tyr127=
NM_018190.3:c.381C>T	NP_060660.2:p.Tyr127=
NM_176824.2:c.381C>T	NP_789794.1:p.Tyr127=
XM_005263106.2:c.381C>T	XP_005263163.1:p.Tyr127=
XM_011532079.1:c.381C>T	XP_011530381.1:p.Tyr127=
XM_011532080.1:c.381C>T	XP_011530382.1:p.Tyr127=
XM_011532081.1:c.381C>T	XP_011530383.1:p.Tyr127=
XM_005263106.4:c.381C>T	XP_005263163.1:p.Tyr127=
XM_011532079.3:c.381C>T	XP_011530381.1:p.Tyr127=
XM_011532080.3:c.381C>T	XP_011530382.1:p.Tyr127=
XM_011532081.3:c.381C>T	XP_011530383.1:p.Tyr127=
XM_017008357.2:c.381C>T	XP_016863846.1:p.Tyr127=
XM_017008358.2:c.381C>T	XP_016863847.1:p.Tyr127=
NM_176824.3:c.381C>T MANE Select	NP_789794.1:p.Tyr127=
NM_018190.4:c.381C>T	NP_060660.2:p.Tyr127=