Canonical Allele Identifier: CA4764264

Gene: CYP7B1

Linked Data

• ClinVar Variation Id: 225337
• ClinVar RCV Id: RCV000490267 ; RCV002517441
• dbSNP Id: rs751713917
• ExAC: 8:65536958 A / G
• gnomAD v2: 8-65536958-A-G
• gnomAD v4: 8-64624401-A-G
• MyVariant Identifiers: chr8:g.65536958A>G (hg19) ; chr8:g.64624401A>G (hg38)
• PubMed: PMID:21452256

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.64624401A>G , CM000670.2:g.64624401A>G	GRCh38
NC_000008.10:g.65536958A>G , CM000670.1:g.65536958A>G	GRCh37
NC_000008.9:g.65699512A>G	NCBI36
NG_008338.1:g.179391T>C
NG_008338.2:g.179391T>C

Transcript Alleles

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