Canonical Allele Identifier: CA6123161
Gene: BBS1 HGNC NCBI

Linked Data

dbSNP Id: rs542326194
ExAC: 11:66278093 C / T
gnomAD v2: 11-66278093-C-T
gnomAD v3: 11-66510622-C-T
gnomAD v4: 11-66510622-C-T
MyVariant Identifiers: chr11:g.66278093C>T (hg19) chr11:g.66510622C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.66510622C>T , CM000673.2:g.66510622C>T GRCh38
NC_000011.9:g.66278093C>T , CM000673.1:g.66278093C>T GRCh37
NC_000011.8:g.66034669C>T NCBI36
NG_009093.1:g.4975C>T
NG_032068.1:g.35214C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000318312.11:c.-38C>T ENSP00000317469.7:n.-38C>T
ENST00000419755.3:c.159-391C>T ENSP00000398526.3:n.159-391C>T
ENST00000526760.5:c.-38C>T ENSP00000432140.1:n.-38C>T
ENST00000527251.5:c.-434C>T ENSP00000434360.1:n.-434C>T
ENST00000533644.5:c.-38C>T ENSP00000436073.1:n.-38C>T
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