Canonical Allele Identifier: CA4764288
Gene: CYP7B1 HGNC NCBI

Linked Data

ClinVar Variation Id: 288985
ClinVar RCV Id: RCV000321175 RCV000353958 RCV001321782 RCV003417908
dbSNP Id: rs375384257
ExAC: 8:65537094 C / T
gnomAD v2: 8-65537094-C-T
gnomAD v3: 8-64624537-C-T
gnomAD v4: 8-64624537-C-T
MyVariant Identifiers: chr8:g.65537094C>T (hg19) chr8:g.64624537C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.64624537C>T , CM000670.2:g.64624537C>T GRCh38
NC_000008.10:g.65537094C>T , CM000670.1:g.65537094C>T GRCh37
NC_000008.9:g.65699648C>T NCBI36
NG_008338.1:g.179255G>A
NG_008338.2:g.179255G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000310193.4:c.125G>A MANE Select ENSP00000310721.3:p.Arg42Lys
ENST00000310193.3:c.125G>A ENSP00000310721.3:p.Arg42Lys
NM_004820.3:c.125G>A NP_004811.1:p.Arg42Lys
NM_001324112.1:c.125G>A NP_001311041.1:p.Arg42Lys
NM_004820.4:c.125G>A NP_004811.1:p.Arg42Lys
XM_017014002.1:c.191G>A XP_016869491.1:p.Arg64Lys
NM_004820.5:c.125G>A MANE Select NP_004811.1:p.Arg42Lys
NM_001324112.2:c.125G>A NP_001311041.1:p.Arg42Lys
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