Canonical Allele Identifier: CA2687454853

Gene: CYP7B1

Linked Data

• gnomAD v4: 8-64624431-AT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.64624432del , CM000670.2:g.64624432del	GRCh38
NC_000008.10:g.65536989del , CM000670.1:g.65536989del	GRCh37
NC_000008.9:g.65699543del	NCBI36
NG_008338.1:g.179360del
NG_008338.2:g.179360del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310193.4:c.230del MANE Select	ENSP00000310721.3:p.His77LeufsTer14
ENST00000310193.3:c.230del	ENSP00000310721.3:p.His77LeufsTer14
NM_004820.3:c.230del	NP_004811.1:p.His77LeufsTer14
NM_001324112.1:c.230del	NP_001311041.1:p.His77LeufsTer14
NM_004820.4:c.230del	NP_004811.1:p.His77LeufsTer14
XM_017014002.1:c.296del	XP_016869491.1:p.His99LeufsTer14
NM_004820.5:c.230del MANE Select	NP_004811.1:p.His77LeufsTer14
NM_001324112.2:c.230del	NP_001311041.1:p.His77LeufsTer14