Canonical Allele Identifier: CA358054256

Gene: BBS7

Linked Data

• dbSNP Id: rs1292881522
• gnomAD v2: 4-122749329-C-A
• gnomAD v4: 4-121828174-C-A
• MyVariant Identifiers: chr4:g.122749329C>A (hg19) ; chr4:g.121828174C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.121828174C>A , CM000666.2:g.121828174C>A	GRCh38
NC_000004.11:g.122749329C>A , CM000666.1:g.122749329C>A	GRCh37
NC_000004.10:g.122968779C>A	NCBI36
NG_009111.1:g.47314G>T
NG_052974.1:g.828G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000264499.9:c.1986G>T MANE Select	ENSP00000264499.4:p.Lys662Asn
ENST00000264499.8:c.1986G>T	ENSP00000264499.4:p.Lys662Asn
ENST00000506636.1:c.1986G>T	ENSP00000423626.1:p.Lys662Asn
ENST00000507814.5:c.255G>T	ENSP00000423250.1:p.Lys85Asn
NM_018190.3:c.1986G>T	NP_060660.2:p.Lys662Asn
NM_176824.2:c.1986G>T	NP_789794.1:p.Lys662Asn
XM_005263106.2:c.1989G>T	XP_005263163.1:p.Lys663Asn
XM_011532079.1:c.2034G>T	XP_011530381.1:p.Lys678Asn
XM_011532080.1:c.2031G>T	XP_011530382.1:p.Lys677Asn
XM_011532081.1:c.1869G>T	XP_011530383.1:p.Lys623Asn
XM_005263106.4:c.1989G>T	XP_005263163.1:p.Lys663Asn
XM_011532079.3:c.2034G>T	XP_011530381.1:p.Lys678Asn
XM_011532080.3:c.2031G>T	XP_011530382.1:p.Lys677Asn
XM_011532081.3:c.1869G>T	XP_011530383.1:p.Lys623Asn
XM_017008357.2:c.1821G>T	XP_016863846.1:p.Lys607Asn
XM_017008358.2:c.1824G>T	XP_016863847.1:p.Lys608Asn
NM_176824.3:c.1986G>T MANE Select	NP_789794.1:p.Lys662Asn
NM_018190.4:c.1986G>T	NP_060660.2:p.Lys662Asn