Canonical Allele Identifier: CA582409116
Gene: CYP7B1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1948567
ClinVar RCV Id: RCV002667836
dbSNP Id: rs1563367625
gnomAD v2: 8-65537045-C-CA
gnomAD v4: 8-64624488-C-CA
MyVariant Identifiers: chr8:g.65537045_65537046insA (hg19) chr8:g.64624488_64624489insA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.64624489dup , CM000670.2:g.64624489dup GRCh38
NC_000008.10:g.65537046dup , CM000670.1:g.65537046dup GRCh37
NC_000008.9:g.65699600dup NCBI36
NG_008338.1:g.179303dup
NG_008338.2:g.179303dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000310193.4:c.173dup MANE Select ENSP00000310721.3:p.Val59GlyfsTer21
ENST00000310193.3:c.173dup ENSP00000310721.3:p.Val59GlyfsTer21
NM_004820.3:c.173dup NP_004811.1:p.Val59GlyfsTer21
NM_001324112.1:c.173dup NP_001311041.1:p.Val59GlyfsTer21
NM_004820.4:c.173dup NP_004811.1:p.Val59GlyfsTer21
XM_017014002.1:c.239dup XP_016869491.1:p.Val81GlyfsTer21
NM_004820.5:c.173dup MANE Select NP_004811.1:p.Val59GlyfsTer21
NM_001324112.2:c.173dup NP_001311041.1:p.Val59GlyfsTer21
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