Canonical Allele Identifier: CA7647094

Gene: BBS4

Linked Data

• ClinVar Variation Id: 317071
• ClinVar RCV Id: RCV000331599
• dbSNP Id: rs578051922
• ExAC: 15:73030077 C / A
• gnomAD v2: 15-73030077-C-A
• gnomAD v3: 15-72737736-C-A
• gnomAD v4: 15-72737736-C-A
• MyVariant Identifiers: chr15:g.73030077C>A (hg19) ; chr15:g.72737736C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72737736C>A , CM000677.2:g.72737736C>A	GRCh38
NC_000015.9:g.73030077C>A , CM000677.1:g.73030077C>A	GRCh37
NC_000015.8:g.70817130C>A	NCBI36
NG_009416.2:g.56552C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268057.9:c.*149C>A MANE Select	ENSP00000268057.4:n.*149C>A
ENST00000268057.8:c.*149C>A	ENSP00000268057.4:n.*149C>A
ENST00000395205.6:c.*149C>A	ENSP00000378631.3:n.*149C>A
ENST00000566400.5:c.*1599C>A	ENSP00000456759.1:n.*1599C>A
ENST00000567279.5:c.*1563C>A	ENSP00000456664.1:n.*1563C>A
NM_001252678.1:c.*149C>A	NP_001239607.1:n.*149C>A
NM_033028.4:c.*149C>A	NP_149017.2:n.*149C>A
NR_045565.1:n.1816C>A
NR_045566.1:n.2071C>A
XM_006720625.2:c.*149C>A	XP_006720688.1:n.*149C>A
XM_011521848.1:c.*149C>A	XP_011520150.1:n.*149C>A
XM_011521849.1:c.*149C>A	XP_011520151.1:n.*149C>A
XM_011521850.1:c.*149C>A	XP_011520152.1:n.*149C>A
XM_011521851.1:c.*149C>A	XP_011520153.1:n.*149C>A
NM_001320665.1:c.*149C>A	NP_001307594.1:n.*149C>A
XM_017022450.1:c.*149C>A	XP_016877939.1:n.*149C>A
XM_017022452.1:c.*149C>A	XP_016877941.1:n.*149C>A
XM_017022453.1:c.*149C>A	XP_016877942.1:n.*149C>A
XM_017022454.1:c.*149C>A	XP_016877943.1:n.*149C>A
NM_033028.5:c.*149C>A MANE Select	NP_149017.2:n.*149C>A
NM_001252678.2:c.*149C>A	NP_001239607.1:n.*149C>A
NM_001320665.2:c.*149C>A	NP_001307594.1:n.*149C>A
NR_045565.2:n.1788C>A
NR_045566.2:n.2043C>A