Canonical Allele Identifier: CA210942

Gene: CYP7B1

Linked Data

• ClinVar Variation Id: 6103
• ClinVar RCV Id: RCV000006477 ; RCV000206595 ; RCV000329074 ; RCV001847591 ; RCV003894794
• dbSNP Id: rs121908611
• ExAC: 8:65509470 C / T
• gnomAD v2: 8-65509470-C-T
• gnomAD v3: 8-64596913-C-T
• gnomAD v4: 8-64596913-C-T
• MyVariant Identifiers: chr8:g.65509470C>T (hg19) ; chr8:g.64596913C>T (hg38)
• PubMed: PMID:7987300 ; PMID:18252231 ; PMID:19439420

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.64596913C>T , CM000670.2:g.64596913C>T	GRCh38
NC_000008.10:g.65509470C>T , CM000670.1:g.65509470C>T	GRCh37
NC_000008.9:g.65672024C>T	NCBI36
NG_008338.1:g.206879G>A
NG_008338.2:g.206879G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310193.4:c.1250G>A MANE Select	ENSP00000310721.3:p.Arg417His
ENST00000310193.3:c.1250G>A	ENSP00000310721.3:p.Arg417His
ENST00000523954.1:n.508-7069G>A
NM_004820.3:c.1250G>A	NP_004811.1:p.Arg417His
NM_001324112.1:c.1234-7069G>A	NP_001311041.1:n.1234-7069G>A
NM_004820.4:c.1250G>A	NP_004811.1:p.Arg417His
XM_017014002.1:c.1316G>A	XP_016869491.1:p.Arg439His
NM_004820.5:c.1250G>A MANE Select	NP_004811.1:p.Arg417His
NM_001324112.2:c.1234-7069G>A	NP_001311041.1:n.1234-7069G>A