Canonical Allele Identifier: CA358066274

Gene: BBS7

Linked Data

• gnomAD v4: 4-121854818-C-A
• MyVariant Identifiers: chr4:g.122775973C>A (hg19) ; chr4:g.121854818C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.121854818C>A , CM000666.2:g.121854818C>A	GRCh38
NC_000004.11:g.122775973C>A , CM000666.1:g.122775973C>A	GRCh37
NC_000004.10:g.122995423C>A	NCBI36
NG_009111.1:g.20670G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264499.9:c.604G>T MANE Select	ENSP00000264499.4:p.Asp202Tyr
ENST00000264499.8:c.604G>T	ENSP00000264499.4:p.Asp202Tyr
ENST00000506636.1:c.604G>T	ENSP00000423626.1:p.Asp202Tyr
NM_018190.3:c.604G>T	NP_060660.2:p.Asp202Tyr
NM_176824.2:c.604G>T	NP_789794.1:p.Asp202Tyr
XM_005263106.2:c.607G>T	XP_005263163.1:p.Asp203Tyr
XM_011532079.1:c.652G>T	XP_011530381.1:p.Asp218Tyr
XM_011532080.1:c.649G>T	XP_011530382.1:p.Asp217Tyr
XM_011532081.1:c.652G>T	XP_011530383.1:p.Asp218Tyr
XM_005263106.4:c.607G>T	XP_005263163.1:p.Asp203Tyr
XM_011532079.3:c.652G>T	XP_011530381.1:p.Asp218Tyr
XM_011532080.3:c.649G>T	XP_011530382.1:p.Asp217Tyr
XM_011532081.3:c.652G>T	XP_011530383.1:p.Asp218Tyr
XM_017008357.2:c.604G>T	XP_016863846.1:p.Asp202Tyr
XM_017008358.2:c.607G>T	XP_016863847.1:p.Asp203Tyr
NM_176824.3:c.604G>T MANE Select	NP_789794.1:p.Asp202Tyr
NM_018190.4:c.604G>T	NP_060660.2:p.Asp202Tyr