Canonical Allele Identifier: CA224070900
Gene: BBS1 HGNC NCBI

Linked Data

dbSNP Id: rs540471071
gnomAD v2: 11-66278096-G-C
gnomAD v3: 11-66510625-G-C
gnomAD v4: 11-66510625-G-C
MyVariant Identifiers: chr11:g.66278096G>C (hg19) chr11:g.66510625G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.66510625G>C , CM000673.2:g.66510625G>C GRCh38
NC_000011.9:g.66278096G>C , CM000673.1:g.66278096G>C GRCh37
NC_000011.8:g.66034672G>C NCBI36
NG_009093.1:g.4978G>C
NG_032068.1:g.35217G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000318312.11:c.-35G>C ENSP00000317469.7:n.-35G>C
ENST00000419755.3:c.159-388G>C ENSP00000398526.3:n.159-388G>C
ENST00000526760.5:c.-35G>C ENSP00000432140.1:n.-35G>C
ENST00000527251.5:c.-431G>C ENSP00000434360.1:n.-431G>C
ENST00000533644.5:c.-35G>C ENSP00000436073.1:n.-35G>C
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