Canonical Allele Identifier: CA350038

Gene: CYP7B1

Linked Data

• ClinVar Variation Id: 220699
• ClinVar RCV Id: RCV000205949 ; RCV000379462
• dbSNP Id: rs377119798
• ExAC: 8:65537015 C / T
• gnomAD v2: 8-65537015-C-T
• gnomAD v3: 8-64624458-C-T
• gnomAD v4: 8-64624458-C-T
• MyVariant Identifiers: chr8:g.65537015C>T (hg19) ; chr8:g.64624458C>T (hg38)

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=