Canonical Allele Identifier: CA4764052
Gene: CYP7B1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1335945
ClinVar RCV Id: RCV001822127 RCV002542493
dbSNP Id: rs773976307
ExAC: 8:65517391 G / A
gnomAD v2: 8-65517391-G-A
gnomAD v3: 8-64604834-G-A
gnomAD v4: 8-64604834-G-A
MyVariant Identifiers: chr8:g.65517391G>A (hg19) chr8:g.64604834G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.64604834G>A , CM000670.2:g.64604834G>A GRCh38
NC_000008.10:g.65517391G>A , CM000670.1:g.65517391G>A GRCh37
NC_000008.9:g.65679945G>A NCBI36
NG_008338.1:g.198958C>T
NG_008338.2:g.198958C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000310193.4:c.1081C>T MANE Select ENSP00000310721.3:p.Arg361Ter
ENST00000310193.3:c.1081C>T ENSP00000310721.3:p.Arg361Ter
ENST00000523954.1:n.355C>T
NM_004820.3:c.1081C>T NP_004811.1:p.Arg361Ter
NM_001324112.1:c.1081C>T NP_001311041.1:p.Arg361Ter
NM_004820.4:c.1081C>T NP_004811.1:p.Arg361Ter
XM_017014002.1:c.1147C>T XP_016869491.1:p.Arg383Ter
NM_004820.5:c.1081C>T MANE Select NP_004811.1:p.Arg361Ter
NM_001324112.2:c.1081C>T NP_001311041.1:p.Arg361Ter
Search 100 bp 5'
Search 100 bp 3'