Canonical Allele Identifier: CA1139660590

Gene: CYP7B1

Linked Data

• ClinVar Variation Id: 872424
• ClinVar RCV Id: RCV001092875
• dbSNP Id: rs1805443015

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.64616143_64616147del , CM000670.2:g.64616143_64616147del	GRCh38
NC_000008.10:g.65528700_65528704del , CM000670.1:g.65528700_65528704del	GRCh37
NC_000008.9:g.65691254_65691258del	NCBI36
NG_008338.1:g.187650_187654del
NG_008338.2:g.187650_187654del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310193.4:c.399_403del MANE Select	ENSP00000310721.3:p.Asp133GlufsTer2
ENST00000310193.3:c.399_403del	ENSP00000310721.3:p.Asp133GlufsTer2
NM_004820.3:c.399_403del	NP_004811.1:p.Asp133GlufsTer2
NM_001324112.1:c.399_403del	NP_001311041.1:p.Asp133GlufsTer2
NM_004820.4:c.399_403del	NP_004811.1:p.Asp133GlufsTer2
XM_017014002.1:c.465_469del	XP_016869491.1:p.Asp155GlufsTer2
NM_004820.5:c.399_403del MANE Select	NP_004811.1:p.Asp133GlufsTer2
NM_001324112.2:c.399_403del	NP_001311041.1:p.Asp133GlufsTer2