Canonical Allele Identifier: CA350038
Gene: CYP7B1 HGNC NCBI

Linked Data

ClinVar Variation Id: 220699
dbSNP Id: rs377119798
gnomAD v2: 8-65537015-C-T
gnomAD v3: 8-64624458-C-T
gnomAD v4: 8-64624458-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.64624458C>T , CM000670.2:g.64624458C>T GRCh38
NC_000008.10:g.65537015C>T , CM000670.1:g.65537015C>T GRCh37
NC_000008.9:g.65699569C>T NCBI36
NG_008338.1:g.179334G>A
NG_008338.2:g.179334G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000310193.4:c.204G>A MANE Select ENSP00000310721.3:p.Arg68=
ENST00000310193.3:c.204G>A ENSP00000310721.3:p.Arg68=
NM_004820.3:c.204G>A NP_004811.1:p.Arg68=
NM_001324112.1:c.204G>A NP_001311041.1:p.Arg68=
NM_004820.4:c.204G>A NP_004811.1:p.Arg68=
XM_017014002.1:c.270G>A XP_016869491.1:p.Arg90=
NM_004820.5:c.204G>A MANE Select NP_004811.1:p.Arg68=
NM_001324112.2:c.204G>A NP_001311041.1:p.Arg68=