Canonical Allele Identifier: CA461121184
Gene: CYP7B1 HGNC NCBI

Linked Data

ClinVar Variation Id: 597214
ClinVar RCV Id: RCV000733268 RCV002061016
dbSNP Id: rs1471365409
gnomAD v2: 8-65537090-G-A
gnomAD v3: 8-64624533-G-A
gnomAD v4: 8-64624533-G-A
COSMIC: COSM1101014
MyVariant Identifiers: chr8:g.65537090G>A (hg19) chr8:g.64624533G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.64624533G>A , CM000670.2:g.64624533G>A GRCh38
NC_000008.10:g.65537090G>A , CM000670.1:g.65537090G>A GRCh37
NC_000008.9:g.65699644G>A NCBI36
NG_008338.1:g.179259C>T
NG_008338.2:g.179259C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000310193.4:c.129C>T MANE Select ENSP00000310721.3:p.Pro43=
ENST00000310193.3:c.129C>T ENSP00000310721.3:p.Pro43=
NM_004820.3:c.129C>T NP_004811.1:p.Pro43=
NM_001324112.1:c.129C>T NP_001311041.1:p.Pro43=
NM_004820.4:c.129C>T NP_004811.1:p.Pro43=
XM_017014002.1:c.195C>T XP_016869491.1:p.Pro65=
NM_004820.5:c.129C>T MANE Select NP_004811.1:p.Pro43=
NM_001324112.2:c.129C>T NP_001311041.1:p.Pro43=
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