Canonical Allele Identifier: CA2573143286
Gene: CYP7B1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1372522
ClinVar RCV Id: RCV001873040
dbSNP Id: rs2129630217
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.64616120dup , CM000670.2:g.64616120dup GRCh38
NC_000008.10:g.65528677dup , CM000670.1:g.65528677dup GRCh37
NC_000008.9:g.65691231dup NCBI36
NG_008338.1:g.187672dup
NG_008338.2:g.187672dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000310193.4:c.421dup MANE Select ENSP00000310721.3:p.Cys141LeufsTer26
ENST00000310193.3:c.421dup ENSP00000310721.3:p.Cys141LeufsTer26
NM_004820.3:c.421dup NP_004811.1:p.Cys141LeufsTer26
NM_001324112.1:c.421dup NP_001311041.1:p.Cys141LeufsTer26
NM_004820.4:c.421dup NP_004811.1:p.Cys141LeufsTer26
XM_017014002.1:c.487dup XP_016869491.1:p.Cys163LeufsTer26
NM_004820.5:c.421dup MANE Select NP_004811.1:p.Cys141LeufsTer26
NM_001324112.2:c.421dup NP_001311041.1:p.Cys141LeufsTer26
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