Canonical Allele Identifier: CA4764277
Gene: CYP7B1 HGNC NCBI

Linked Data

ClinVar Variation Id: 911144
ClinVar RCV Id: RCV001163459 RCV001468792
dbSNP Id: rs763202430
ExAC: 8:65537042 G / T
gnomAD v2: 8-65537042-G-T
gnomAD v3: 8-64624485-G-T
gnomAD v4: 8-64624485-G-T
MyVariant Identifiers: chr8:g.65537042G>T (hg19) chr8:g.64624485G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.64624485G>T , CM000670.2:g.64624485G>T GRCh38
NC_000008.10:g.65537042G>T , CM000670.1:g.65537042G>T GRCh37
NC_000008.9:g.65699596G>T NCBI36
NG_008338.1:g.179307C>A
NG_008338.2:g.179307C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000310193.4:c.177C>A MANE Select ENSP00000310721.3:p.Val59=
ENST00000310193.3:c.177C>A ENSP00000310721.3:p.Val59=
NM_004820.3:c.177C>A NP_004811.1:p.Val59=
NM_001324112.1:c.177C>A NP_001311041.1:p.Val59=
NM_004820.4:c.177C>A NP_004811.1:p.Val59=
XM_017014002.1:c.243C>A XP_016869491.1:p.Val81=
NM_004820.5:c.177C>A MANE Select NP_004811.1:p.Val59=
NM_001324112.2:c.177C>A NP_001311041.1:p.Val59=
Search 100 bp 5'
Search 100 bp 3'