Canonical Allele Identifier: CA10628219

Gene: CYP7B1

Linked Data

• ClinVar Variation Id: 363590
• ClinVar RCV Id: RCV000380767 ; RCV002523697
• dbSNP Id: rs886063076
• gnomAD v2: 8-65711053-A-T
• gnomAD v3: 8-64798496-A-T
• gnomAD v4: 8-64798496-A-T
• MyVariant Identifiers: chr8:g.65711053A>T (hg19) ; chr8:g.64798496A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.64798496A>T , CM000670.2:g.64798496A>T	GRCh38
NC_000008.10:g.65711053A>T , CM000670.1:g.65711053A>T	GRCh37
NC_000008.9:g.65873607A>T	NCBI36
NG_008338.1:g.5296T>A
NG_008338.2:g.5296T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310193.4:c.92T>A MANE Select	ENSP00000310721.3:p.Leu31Gln
ENST00000310193.3:c.92T>A	ENSP00000310721.3:p.Leu31Gln
NM_004820.3:c.92T>A	NP_004811.1:p.Leu31Gln
NM_001324112.1:c.92T>A	NP_001311041.1:p.Leu31Gln
NM_004820.4:c.92T>A	NP_004811.1:p.Leu31Gln
NM_004820.5:c.92T>A MANE Select	NP_004811.1:p.Leu31Gln
NM_001324112.2:c.92T>A	NP_001311041.1:p.Leu31Gln