Canonical Allele Identifier: CA2687454668

Gene: CYP7B1

Linked Data

• gnomAD v4: 8-64616211-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.64616212del , CM000670.2:g.64616212del	GRCh38
NC_000008.10:g.65528769del , CM000670.1:g.65528769del	GRCh37
NC_000008.9:g.65691323del	NCBI36
NG_008338.1:g.187580del
NG_008338.2:g.187580del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310193.4:c.329del MANE Select	ENSP00000310721.3:p.Ser110ThrfsTer10
ENST00000310193.3:c.329del	ENSP00000310721.3:p.Ser110ThrfsTer10
NM_004820.3:c.329del	NP_004811.1:p.Ser110ThrfsTer10
NM_001324112.1:c.329del	NP_001311041.1:p.Ser110ThrfsTer10
NM_004820.4:c.329del	NP_004811.1:p.Ser110ThrfsTer10
XM_017014002.1:c.395del	XP_016869491.1:p.Ser132ThrfsTer10
NM_004820.5:c.329del MANE Select	NP_004811.1:p.Ser110ThrfsTer10
NM_001324112.2:c.329del	NP_001311041.1:p.Ser110ThrfsTer10