Canonical Allele Identifier: CA371335798
Gene: CYP7B1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1981676
ClinVar RCV Id: RCV002751602
dbSNP Id: rs1178071886
gnomAD v2: 8-65528680-G-A
gnomAD v4: 8-64616123-G-A
COSMIC: COSM5641690
MyVariant Identifiers: chr8:g.65528680G>A (hg19) chr8:g.64616123G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.64616123G>A , CM000670.2:g.64616123G>A GRCh38
NC_000008.10:g.65528680G>A , CM000670.1:g.65528680G>A GRCh37
NC_000008.9:g.65691234G>A NCBI36
NG_008338.1:g.187669C>T
NG_008338.2:g.187669C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000310193.4:c.418C>T MANE Select ENSP00000310721.3:p.Leu140Phe
ENST00000310193.3:c.418C>T ENSP00000310721.3:p.Leu140Phe
NM_004820.3:c.418C>T NP_004811.1:p.Leu140Phe
NM_001324112.1:c.418C>T NP_001311041.1:p.Leu140Phe
NM_004820.4:c.418C>T NP_004811.1:p.Leu140Phe
XM_017014002.1:c.484C>T XP_016869491.1:p.Leu162Phe
NM_004820.5:c.418C>T MANE Select NP_004811.1:p.Leu140Phe
NM_001324112.2:c.418C>T NP_001311041.1:p.Leu140Phe
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