Canonical Allele Identifier: CA554188420

Gene: BBS7

Linked Data

• dbSNP Id: rs1401562163
• gnomAD v2: 4-122775991-G-C
• gnomAD v4: 4-121854836-G-C
• MyVariant Identifiers: chr4:g.122775991G>C (hg19) ; chr4:g.121854836G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.121854836G>C , CM000666.2:g.121854836G>C	GRCh38
NC_000004.11:g.122775991G>C , CM000666.1:g.122775991G>C	GRCh37
NC_000004.10:g.122995441G>C	NCBI36
NG_009111.1:g.20652C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264499.9:c.602-16C>G MANE Select	ENSP00000264499.4:n.602-16C>G
ENST00000264499.8:c.602-16C>G	ENSP00000264499.4:n.602-16C>G
ENST00000506636.1:c.602-16C>G	ENSP00000423626.1:n.602-16C>G
NM_018190.3:c.602-16C>G	NP_060660.2:n.602-16C>G
NM_176824.2:c.602-16C>G	NP_789794.1:n.602-16C>G
XM_005263106.2:c.602-13C>G	XP_005263163.1:n.602-13C>G
XM_011532079.1:c.647-13C>G	XP_011530381.1:n.647-13C>G
XM_011532080.1:c.647-16C>G	XP_011530382.1:n.647-16C>G
XM_011532081.1:c.647-13C>G	XP_011530383.1:n.647-13C>G
XM_005263106.4:c.602-13C>G	XP_005263163.1:n.602-13C>G
XM_011532079.3:c.647-13C>G	XP_011530381.1:n.647-13C>G
XM_011532080.3:c.647-16C>G	XP_011530382.1:n.647-16C>G
XM_011532081.3:c.647-13C>G	XP_011530383.1:n.647-13C>G
XM_017008357.2:c.602-16C>G	XP_016863846.1:n.602-16C>G
XM_017008358.2:c.602-13C>G	XP_016863847.1:n.602-13C>G
NM_176824.3:c.602-16C>G MANE Select	NP_789794.1:n.602-16C>G
NM_018190.4:c.602-16C>G	NP_060660.2:n.602-16C>G