Canonical Allele Identifier: CA4764285
Gene: CYP7B1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1625791
ClinVar RCV Id: RCV002109232
dbSNP Id: rs753231826
ExAC: 8:65537084 C / T
gnomAD v2: 8-65537084-C-T
gnomAD v3: 8-64624527-C-T
gnomAD v4: 8-64624527-C-T
MyVariant Identifiers: chr8:g.65537084C>T (hg19) chr8:g.64624527C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.64624527C>T , CM000670.2:g.64624527C>T GRCh38
NC_000008.10:g.65537084C>T , CM000670.1:g.65537084C>T GRCh37
NC_000008.9:g.65699638C>T NCBI36
NG_008338.1:g.179265G>A
NG_008338.2:g.179265G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000310193.4:c.135G>A MANE Select ENSP00000310721.3:p.Glu45=
ENST00000310193.3:c.135G>A ENSP00000310721.3:p.Glu45=
NM_004820.3:c.135G>A NP_004811.1:p.Glu45=
NM_001324112.1:c.135G>A NP_001311041.1:p.Glu45=
NM_004820.4:c.135G>A NP_004811.1:p.Glu45=
XM_017014002.1:c.201G>A XP_016869491.1:p.Glu67=
NM_004820.5:c.135G>A MANE Select NP_004811.1:p.Glu45=
NM_001324112.2:c.135G>A NP_001311041.1:p.Glu45=
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