Canonical Allele Identifier: CA3064436

Gene: BBS7

Linked Data

• dbSNP Id: rs762367354
• ExAC: 4:122775895 G / C
• gnomAD v2: 4-122775895-G-C
• gnomAD v4: 4-121854740-G-C
• MyVariant Identifiers: chr4:g.122775895G>C (hg19) ; chr4:g.121854740G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.121854740G>C , CM000666.2:g.121854740G>C	GRCh38
NC_000004.11:g.122775895G>C , CM000666.1:g.122775895G>C	GRCh37
NC_000004.10:g.122995345G>C	NCBI36
NG_009111.1:g.20748C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264499.9:c.682C>G MANE Select	ENSP00000264499.4:p.Arg228Gly
ENST00000264499.8:c.682C>G	ENSP00000264499.4:p.Arg228Gly
ENST00000506636.1:c.682C>G	ENSP00000423626.1:p.Arg228Gly
NM_018190.3:c.682C>G	NP_060660.2:p.Arg228Gly
NM_176824.2:c.682C>G	NP_789794.1:p.Arg228Gly
XM_005263106.2:c.685C>G	XP_005263163.1:p.Arg229Gly
XM_011532079.1:c.730C>G	XP_011530381.1:p.Arg244Gly
XM_011532080.1:c.727C>G	XP_011530382.1:p.Arg243Gly
XM_011532081.1:c.730C>G	XP_011530383.1:p.Arg244Gly
XM_005263106.4:c.685C>G	XP_005263163.1:p.Arg229Gly
XM_011532079.3:c.730C>G	XP_011530381.1:p.Arg244Gly
XM_011532080.3:c.727C>G	XP_011530382.1:p.Arg243Gly
XM_011532081.3:c.730C>G	XP_011530383.1:p.Arg244Gly
XM_017008357.2:c.682C>G	XP_016863846.1:p.Arg228Gly
XM_017008358.2:c.685C>G	XP_016863847.1:p.Arg229Gly
NM_176824.3:c.682C>G MANE Select	NP_789794.1:p.Arg228Gly
NM_018190.4:c.682C>G	NP_060660.2:p.Arg228Gly