Canonical Allele Identifier: CA16044049

Gene: BBS7

Linked Data

• ClinVar Variation Id: 375301
• ClinVar RCV Id: RCV000416357 ; RCV003633501
• dbSNP Id: rs1057519027
• gnomAD v2: 4-122749426-T-G
• gnomAD v4: 4-121828271-T-G
• MyVariant Identifiers: chr4:g.122749426T>G (hg19) ; chr4:g.121828271T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.121828271T>G , CM000666.2:g.121828271T>G	GRCh38
NC_000004.11:g.122749426T>G , CM000666.1:g.122749426T>G	GRCh37
NC_000004.10:g.122968876T>G	NCBI36
NG_009111.1:g.47217A>C
NG_052974.1:g.731A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264499.9:c.1891-2A>C MANE Select	ENSP00000264499.4:n.1891-2A>C
ENST00000264499.8:c.1891-2A>C	ENSP00000264499.4:n.1891-2A>C
ENST00000506636.1:c.1891-2A>C	ENSP00000423626.1:n.1891-2A>C
ENST00000507814.5:c.160-2A>C	ENSP00000423250.1:n.160-2A>C
NM_018190.3:c.1891-2A>C	NP_060660.2:n.1891-2A>C
NM_176824.2:c.1891-2A>C	NP_789794.1:n.1891-2A>C
XM_005263106.2:c.1894-2A>C	XP_005263163.1:n.1894-2A>C
XM_011532079.1:c.1939-2A>C	XP_011530381.1:n.1939-2A>C
XM_011532080.1:c.1936-2A>C	XP_011530382.1:n.1936-2A>C
XM_011532081.1:c.1774-2A>C	XP_011530383.1:n.1774-2A>C
XM_005263106.4:c.1894-2A>C	XP_005263163.1:n.1894-2A>C
XM_011532079.3:c.1939-2A>C	XP_011530381.1:n.1939-2A>C
XM_011532080.3:c.1936-2A>C	XP_011530382.1:n.1936-2A>C
XM_011532081.3:c.1774-2A>C	XP_011530383.1:n.1774-2A>C
XM_017008357.2:c.1726-2A>C	XP_016863846.1:n.1726-2A>C
XM_017008358.2:c.1729-2A>C	XP_016863847.1:n.1729-2A>C
NM_176824.3:c.1891-2A>C MANE Select	NP_789794.1:n.1891-2A>C
NM_018190.4:c.1891-2A>C	NP_060660.2:n.1891-2A>C