Canonical Allele Identifier: CA210944

Gene: CYP7B1

Linked Data

• ClinVar Variation Id: 6105
• ClinVar RCV Id: RCV000006479 ; RCV000260437 ; RCV000515995 ; RCV000553161
• dbSNP Id: rs121908613
• ExAC: 8:65528273 A / T
• gnomAD v2: 8-65528273-A-T
• gnomAD v3: 8-64615716-A-T
• gnomAD v4: 8-64615716-A-T
• MyVariant Identifiers: chr8:g.65528273A>T (hg19) ; chr8:g.64615716A>T (hg38)
• PubMed: PMID:18855023 ; PMID:19439420 ; PMID:19812052 ; PMID:22384504 ; PMID:25525159 ; PMID:28832565

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310193.4:c.825T>A MANE Select	ENSP00000310721.3:p.Tyr275Ter
ENST00000310193.3:c.825T>A	ENSP00000310721.3:p.Tyr275Ter
ENST00000523954.1:n.99T>A
NM_004820.3:c.825T>A	NP_004811.1:p.Tyr275Ter
NM_001324112.1:c.825T>A	NP_001311041.1:p.Tyr275Ter
NM_004820.4:c.825T>A	NP_004811.1:p.Tyr275Ter
XM_017014002.1:c.891T>A	XP_016869491.1:p.Tyr297Ter
NM_004820.5:c.825T>A MANE Select	NP_004811.1:p.Tyr275Ter
NM_001324112.2:c.825T>A	NP_001311041.1:p.Tyr275Ter