Canonical Allele Identifier: CA4764147

Gene: CYP7B1

Linked Data

• ClinVar Variation Id: 1993963
• ClinVar RCV Id: RCV002806505
• dbSNP Id: rs121908613
• ExAC: 8:65528273 A / G
• gnomAD v2: 8-65528273-A-G
• gnomAD v3: 8-64615716-A-G
• gnomAD v4: 8-64615716-A-G
• MyVariant Identifiers: chr8:g.65528273A>G (hg19) ; chr8:g.64615716A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.64615716A>G , CM000670.2:g.64615716A>G	GRCh38
NC_000008.10:g.65528273A>G , CM000670.1:g.65528273A>G	GRCh37
NC_000008.9:g.65690827A>G	NCBI36
NG_008338.1:g.188076T>C
NG_008338.2:g.188076T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000310193.4:c.825T>C MANE Select	ENSP00000310721.3:p.Tyr275=
ENST00000310193.3:c.825T>C	ENSP00000310721.3:p.Tyr275=
ENST00000523954.1:n.99T>C
NM_004820.3:c.825T>C	NP_004811.1:p.Tyr275=
NM_001324112.1:c.825T>C	NP_001311041.1:p.Tyr275=
NM_004820.4:c.825T>C	NP_004811.1:p.Tyr275=
XM_017014002.1:c.891T>C	XP_016869491.1:p.Tyr297=
NM_004820.5:c.825T>C MANE Select	NP_004811.1:p.Tyr275=
NM_001324112.2:c.825T>C	NP_001311041.1:p.Tyr275=