Canonical Allele Identifier: CA210948

Gene: CYP7B1

Linked Data

• ClinVar Variation Id: 6107
• ClinVar RCV Id: RCV000006481 ; RCV000197085 ; RCV000290486 ; RCV000516130 ; RCV002476935 ; RCV003398453
• dbSNP Id: rs116171274
• ExAC: 8:65509264 G / A
• gnomAD v2: 8-65509264-G-A
• gnomAD v3: 8-64596707-G-A
• gnomAD v4: 8-64596707-G-A
• MyVariant Identifiers: chr8:g.65509264G>A (hg19) ; chr8:g.64596707G>A (hg38)
• PubMed: PMID:19439420 ; PMID:21541746 ; PMID:21623769 ; PMID:22384504 ; PMID:23812641 ; PMID:24117163 ; PMID:24927729 ; PMID:27217339 ; PMID:28832565

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.64596707G>A , CM000670.2:g.64596707G>A	GRCh38
NC_000008.10:g.65509264G>A , CM000670.1:g.65509264G>A	GRCh37
NC_000008.9:g.65671818G>A	NCBI36
NG_008338.1:g.207085C>T
NG_008338.2:g.207085C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310193.4:c.1456C>T MANE Select	ENSP00000310721.3:p.Arg486Cys
ENST00000310193.3:c.1456C>T	ENSP00000310721.3:p.Arg486Cys
ENST00000523954.1:n.508-6863C>T
NM_004820.3:c.1456C>T	NP_004811.1:p.Arg486Cys
NM_001324112.1:c.1234-6863C>T	NP_001311041.1:n.1234-6863C>T
NM_004820.4:c.1456C>T	NP_004811.1:p.Arg486Cys
XM_017014002.1:c.1522C>T	XP_016869491.1:p.Arg508Cys
NM_004820.5:c.1456C>T MANE Select	NP_004811.1:p.Arg486Cys
NM_001324112.2:c.1234-6863C>T	NP_001311041.1:n.1234-6863C>T