Canonical Allele Identifier: CA2687454667

Gene: CYP7B1

Linked Data

• ClinVar Variation Id: 2871585
• ClinVar RCV Id: RCV003750311
• gnomAD v4: 8-64616206-CGA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.64616207_64616208del , CM000670.2:g.64616207_64616208del	GRCh38
NC_000008.10:g.65528764_65528765del , CM000670.1:g.65528764_65528765del	GRCh37
NC_000008.9:g.65691318_65691319del	NCBI36
NG_008338.1:g.187584_187585del
NG_008338.2:g.187584_187585del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310193.4:c.333_334del MANE Select	ENSP00000310721.3:p.Phe111LeufsTer5
ENST00000310193.3:c.333_334del	ENSP00000310721.3:p.Phe111LeufsTer5
NM_004820.3:c.333_334del	NP_004811.1:p.Phe111LeufsTer5
NM_001324112.1:c.333_334del	NP_001311041.1:p.Phe111LeufsTer5
NM_004820.4:c.333_334del	NP_004811.1:p.Phe111LeufsTer5
XM_017014002.1:c.399_400del	XP_016869491.1:p.Phe133LeufsTer5
NM_004820.5:c.333_334del MANE Select	NP_004811.1:p.Phe111LeufsTer5
NM_001324112.2:c.333_334del	NP_001311041.1:p.Phe111LeufsTer5