Canonical Allele Identifier: CA334780
Gene: BBS12 HGNC NCBI

Linked Data

ClinVar Variation Id: 188395
ClinVar RCV Id: RCV000168458 RCV000584997 RCV000665631 RCV003407625
dbSNP Id: rs752254471
ExAC: 4:123664186 C / T
gnomAD v2: 4-123664186-C-T
gnomAD v3: 4-122743031-C-T
gnomAD v4: 4-122743031-C-T
MyVariant Identifiers: chr4:g.123664186C>T (hg19) chr4:g.122743031C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.122743031C>T , CM000666.2:g.122743031C>T GRCh38
NC_000004.11:g.123664186C>T , CM000666.1:g.123664186C>T GRCh37
NC_000004.10:g.123883636C>T NCBI36
NG_021203.1:g.15330C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000314218.8:c.1139C>T MANE Select ENSP00000319062.3:p.Thr380Ile
ENST00000314218.7:c.1139C>T ENSP00000319062.3:p.Thr380Ile
ENST00000542236.5:c.1139C>T ENSP00000438273.1:p.Thr380Ile
NM_001178007.1:c.1139C>T NP_001171478.1:p.Thr380Ile
NM_152618.2:c.1139C>T NP_689831.2:p.Thr380Ile
XM_011531680.1:c.1139C>T XP_011529982.1:p.Thr380Ile
XM_011531680.2:c.1139C>T XP_011529982.1:p.Thr380Ile
XM_017007831.1:c.1139C>T XP_016863320.1:p.Thr380Ile
NM_152618.3:c.1139C>T MANE Select NP_689831.2:p.Thr380Ile
NM_001178007.2:c.1139C>T NP_001171478.1:p.Thr380Ile
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