Canonical Allele Identifier: CA2599542964

Gene: CYP7B1

Linked Data

• dbSNP Id: rs2129630421
• gnomAD v3: 8-64624217-CT-C
• gnomAD v4: 8-64624217-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.64624218del , CM000670.2:g.64624218del	GRCh38
NC_000008.10:g.65536775del , CM000670.1:g.65536775del	GRCh37
NC_000008.9:g.65699329del	NCBI36
NG_008338.1:g.179574del
NG_008338.2:g.179574del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310193.4:c.259+185del MANE Select	ENSP00000310721.3:n.259+185del
ENST00000310193.3:c.259+185del	ENSP00000310721.3:n.259+185del
NM_004820.3:c.259+185del	NP_004811.1:n.259+185del
NM_001324112.1:c.259+185del	NP_001311041.1:n.259+185del
NM_004820.4:c.259+185del	NP_004811.1:n.259+185del
XM_017014002.1:c.325+185del	XP_016869491.1:n.325+185del
NM_004820.5:c.259+185del MANE Select	NP_004811.1:n.259+185del
NM_001324112.2:c.259+185del	NP_001311041.1:n.259+185del