Canonical Allele Identifier: CA104766758

Gene: BBS7

Linked Data

• dbSNP Id: rs944507541
• gnomAD v3: 4-121854895-G-A
• gnomAD v4: 4-121854895-G-A
• MyVariant Identifiers: chr4:g.122776050G>A (hg19) ; chr4:g.121854895G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.121854895G>A , CM000666.2:g.121854895G>A	GRCh38
NC_000004.11:g.122776050G>A , CM000666.1:g.122776050G>A	GRCh37
NC_000004.10:g.122995500G>A	NCBI36
NG_009111.1:g.20593C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264499.9:c.602-75C>T MANE Select	ENSP00000264499.4:n.602-75C>T
ENST00000264499.8:c.602-75C>T	ENSP00000264499.4:n.602-75C>T
ENST00000506636.1:c.602-75C>T	ENSP00000423626.1:n.602-75C>T
NM_018190.3:c.602-75C>T	NP_060660.2:n.602-75C>T
NM_176824.2:c.602-75C>T	NP_789794.1:n.602-75C>T
XM_005263106.2:c.602-72C>T	XP_005263163.1:n.602-72C>T
XM_011532079.1:c.647-72C>T	XP_011530381.1:n.647-72C>T
XM_011532080.1:c.647-75C>T	XP_011530382.1:n.647-75C>T
XM_011532081.1:c.647-72C>T	XP_011530383.1:n.647-72C>T
XM_005263106.4:c.602-72C>T	XP_005263163.1:n.602-72C>T
XM_011532079.3:c.647-72C>T	XP_011530381.1:n.647-72C>T
XM_011532080.3:c.647-75C>T	XP_011530382.1:n.647-75C>T
XM_011532081.3:c.647-72C>T	XP_011530383.1:n.647-72C>T
XM_017008357.2:c.602-75C>T	XP_016863846.1:n.602-75C>T
XM_017008358.2:c.602-72C>T	XP_016863847.1:n.602-72C>T
NM_176824.3:c.602-75C>T MANE Select	NP_789794.1:n.602-75C>T
NM_018190.4:c.602-75C>T	NP_060660.2:n.602-75C>T