Canonical Allele Identifier: CA4764284
Gene: CYP7B1 HGNC NCBI

Linked Data

ClinVar Variation Id: 528021
ClinVar RCV Id: RCV000633081 RCV003953117
dbSNP Id: rs767850063
ExAC: 8:65537077 A / G
gnomAD v2: 8-65537077-A-G
gnomAD v3: 8-64624520-A-G
gnomAD v4: 8-64624520-A-G
MyVariant Identifiers: chr8:g.65537077A>G (hg19) chr8:g.64624520A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.64624520A>G , CM000670.2:g.64624520A>G GRCh38
NC_000008.10:g.65537077A>G , CM000670.1:g.65537077A>G GRCh37
NC_000008.9:g.65699631A>G NCBI36
NG_008338.1:g.179272T>C
NG_008338.2:g.179272T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000310193.4:c.142T>C MANE Select ENSP00000310721.3:p.Leu48=
ENST00000310193.3:c.142T>C ENSP00000310721.3:p.Leu48=
NM_004820.3:c.142T>C NP_004811.1:p.Leu48=
NM_001324112.1:c.142T>C NP_001311041.1:p.Leu48=
NM_004820.4:c.142T>C NP_004811.1:p.Leu48=
XM_017014002.1:c.208T>C XP_016869491.1:p.Leu70=
NM_004820.5:c.142T>C MANE Select NP_004811.1:p.Leu48=
NM_001324112.2:c.142T>C NP_001311041.1:p.Leu48=
Search 100 bp 5'
Search 100 bp 3'