Canonical Allele Identifier: CA4764283
Gene: CYP7B1 HGNC NCBI

Linked Data

dbSNP Id: rs190031698
ExAC: 8:65537076 A / T
gnomAD v2: 8-65537076-A-T
gnomAD v3: 8-64624519-A-T
gnomAD v4: 8-64624519-A-T
MyVariant Identifiers: chr8:g.65537076A>T (hg19) chr8:g.64624519A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.64624519A>T , CM000670.2:g.64624519A>T GRCh38
NC_000008.10:g.65537076A>T , CM000670.1:g.65537076A>T GRCh37
NC_000008.9:g.65699630A>T NCBI36
NG_008338.1:g.179273T>A
NG_008338.2:g.179273T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000310193.4:c.143T>A MANE Select ENSP00000310721.3:p.Leu48Ter
ENST00000310193.3:c.143T>A ENSP00000310721.3:p.Leu48Ter
NM_004820.3:c.143T>A NP_004811.1:p.Leu48Ter
NM_001324112.1:c.143T>A NP_001311041.1:p.Leu48Ter
NM_004820.4:c.143T>A NP_004811.1:p.Leu48Ter
XM_017014002.1:c.209T>A XP_016869491.1:p.Leu70Ter
NM_004820.5:c.143T>A MANE Select NP_004811.1:p.Leu48Ter
NM_001324112.2:c.143T>A NP_001311041.1:p.Leu48Ter
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