Canonical Allele Identifier: CA4764216
Gene: CYP7B1 HGNC NCBI

Linked Data

dbSNP Id: rs267601965
ExAC: 8:65528704 G / A
gnomAD v2: 8-65528704-G-A
gnomAD v4: 8-64616147-G-A
COSMIC: COSM4405121
MyVariant Identifiers: chr8:g.65528704G>A (hg19) chr8:g.64616147G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.64616147G>A , CM000670.2:g.64616147G>A GRCh38
NC_000008.10:g.65528704G>A , CM000670.1:g.65528704G>A GRCh37
NC_000008.9:g.65691258G>A NCBI36
NG_008338.1:g.187645C>T
NG_008338.2:g.187645C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000310193.4:c.394C>T MANE Select ENSP00000310721.3:p.His132Tyr
ENST00000310193.3:c.394C>T ENSP00000310721.3:p.His132Tyr
NM_004820.3:c.394C>T NP_004811.1:p.His132Tyr
NM_001324112.1:c.394C>T NP_001311041.1:p.His132Tyr
NM_004820.4:c.394C>T NP_004811.1:p.His132Tyr
XM_017014002.1:c.460C>T XP_016869491.1:p.His154Tyr
NM_004820.5:c.394C>T MANE Select NP_004811.1:p.His132Tyr
NM_001324112.2:c.394C>T NP_001311041.1:p.His132Tyr
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