Canonical Allele Identifier: CA4764192

Gene: CYP7B1

Linked Data

• ClinVar Variation Id: 363585
• ClinVar RCV Id: RCV000391244 ; RCV000593980 ; RCV001078606
• dbSNP Id: rs371522442
• ExAC: 8:65528576 A / G
• gnomAD v2: 8-65528576-A-G
• gnomAD v3: 8-64616019-A-G
• gnomAD v4: 8-64616019-A-G
• MyVariant Identifiers: chr8:g.65528576A>G (hg19) ; chr8:g.64616019A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.64616019A>G , CM000670.2:g.64616019A>G	GRCh38
NC_000008.10:g.65528576A>G , CM000670.1:g.65528576A>G	GRCh37
NC_000008.9:g.65691130A>G	NCBI36
NG_008338.1:g.187773T>C
NG_008338.2:g.187773T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310193.4:c.522T>C MANE Select	ENSP00000310721.3:p.Ser174=
ENST00000310193.3:c.522T>C	ENSP00000310721.3:p.Ser174=
NM_004820.3:c.522T>C	NP_004811.1:p.Ser174=
NM_001324112.1:c.522T>C	NP_001311041.1:p.Ser174=
NM_004820.4:c.522T>C	NP_004811.1:p.Ser174=
XM_017014002.1:c.588T>C	XP_016869491.1:p.Ser196=
NM_004820.5:c.522T>C MANE Select	NP_004811.1:p.Ser174=
NM_001324112.2:c.522T>C	NP_001311041.1:p.Ser174=