Canonical Allele Identifier: CA4764207
Gene: CYP7B1 HGNC NCBI

Linked Data

dbSNP Id: rs762965007
ExAC: 8:65528652 G / T
gnomAD v2: 8-65528652-G-T
gnomAD v3: 8-64616095-G-T
gnomAD v4: 8-64616095-G-T
COSMIC: COSM3699131
MyVariant Identifiers: chr8:g.65528652G>T (hg19) chr8:g.64616095G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.64616095G>T , CM000670.2:g.64616095G>T GRCh38
NC_000008.10:g.65528652G>T , CM000670.1:g.65528652G>T GRCh37
NC_000008.9:g.65691206G>T NCBI36
NG_008338.1:g.187697C>A
NG_008338.2:g.187697C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000310193.4:c.446C>A MANE Select ENSP00000310721.3:p.Ser149Tyr
ENST00000310193.3:c.446C>A ENSP00000310721.3:p.Ser149Tyr
NM_004820.3:c.446C>A NP_004811.1:p.Ser149Tyr
NM_001324112.1:c.446C>A NP_001311041.1:p.Ser149Tyr
NM_004820.4:c.446C>A NP_004811.1:p.Ser149Tyr
XM_017014002.1:c.512C>A XP_016869491.1:p.Ser171Tyr
NM_004820.5:c.446C>A MANE Select NP_004811.1:p.Ser149Tyr
NM_001324112.2:c.446C>A NP_001311041.1:p.Ser149Tyr
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