Canonical Allele Identifier: CA3069405

Gene: BBS12

Linked Data

• ClinVar Variation Id: 444641
• ClinVar RCV Id: RCV000512649 ; RCV001073517 ; RCV001047657 ; RCV001829459 ; RCV002282194
• dbSNP Id: rs758217005
• ExAC: 4:123664284 C / G
• gnomAD v2: 4-123664284-C-G
• gnomAD v3: 4-122743129-C-G
• gnomAD v4: 4-122743129-C-G
• MyVariant Identifiers: chr4:g.123664284C>G (hg19) ; chr4:g.122743129C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.122743129C>G , CM000666.2:g.122743129C>G	GRCh38
NC_000004.11:g.123664284C>G , CM000666.1:g.123664284C>G	GRCh37
NC_000004.10:g.123883734C>G	NCBI36
NG_021203.1:g.15428C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000314218.8:c.1237C>G MANE Select	ENSP00000319062.3:p.Leu413Val
ENST00000314218.7:c.1237C>G	ENSP00000319062.3:p.Leu413Val
ENST00000542236.5:c.1237C>G	ENSP00000438273.1:p.Leu413Val
NM_001178007.1:c.1237C>G	NP_001171478.1:p.Leu413Val
NM_152618.2:c.1237C>G	NP_689831.2:p.Leu413Val
XM_011531680.1:c.1237C>G	XP_011529982.1:p.Leu413Val
XM_011531680.2:c.1237C>G	XP_011529982.1:p.Leu413Val
XM_017007831.1:c.1237C>G	XP_016863320.1:p.Leu413Val
NM_152618.3:c.1237C>G MANE Select	NP_689831.2:p.Leu413Val
NM_001178007.2:c.1237C>G	NP_001171478.1:p.Leu413Val