Canonical Allele Identifier: CA4764193
Gene: CYP7B1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2050175
ClinVar RCV Id: RCV002937482
dbSNP Id: rs777885599
ExAC: 8:65528581 T / G
gnomAD v2: 8-65528581-T-G
gnomAD v3: 8-64616024-T-G
gnomAD v4: 8-64616024-T-G
MyVariant Identifiers: chr8:g.65528581T>G (hg19) chr8:g.64616024T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.64616024T>G , CM000670.2:g.64616024T>G GRCh38
NC_000008.10:g.65528581T>G , CM000670.1:g.65528581T>G GRCh37
NC_000008.9:g.65691135T>G NCBI36
NG_008338.1:g.187768A>C
NG_008338.2:g.187768A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000310193.4:c.517A>C MANE Select ENSP00000310721.3:p.Thr173Pro
ENST00000310193.3:c.517A>C ENSP00000310721.3:p.Thr173Pro
NM_004820.3:c.517A>C NP_004811.1:p.Thr173Pro
NM_001324112.1:c.517A>C NP_001311041.1:p.Thr173Pro
NM_004820.4:c.517A>C NP_004811.1:p.Thr173Pro
XM_017014002.1:c.583A>C XP_016869491.1:p.Thr195Pro
NM_004820.5:c.517A>C MANE Select NP_004811.1:p.Thr173Pro
NM_001324112.2:c.517A>C NP_001311041.1:p.Thr173Pro
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