Canonical Allele Identifier: CA4764306

Gene: CYP7B1

Linked Data

• ClinVar Variation Id: 500781
• ClinVar RCV Id: RCV000592567 ; RCV001163460 ; RCV001510265
• dbSNP Id: rs181854355
• ExAC: 8:65711051 C / A
• gnomAD v2: 8-65711051-C-A
• gnomAD v3: 8-64798494-C-A
• gnomAD v4: 8-64798494-C-A
• MyVariant Identifiers: chr8:g.65711051C>A (hg19) ; chr8:g.64798494C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.64798494C>A , CM000670.2:g.64798494C>A	GRCh38
NC_000008.10:g.65711051C>A , CM000670.1:g.65711051C>A	GRCh37
NC_000008.9:g.65873605C>A	NCBI36
NG_008338.1:g.5298G>T
NG_008338.2:g.5298G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310193.4:c.94G>T MANE Select	ENSP00000310721.3:p.Ala32Ser
ENST00000310193.3:c.94G>T	ENSP00000310721.3:p.Ala32Ser
NM_004820.3:c.94G>T	NP_004811.1:p.Ala32Ser
NM_001324112.1:c.94G>T	NP_001311041.1:p.Ala32Ser
NM_004820.4:c.94G>T	NP_004811.1:p.Ala32Ser
NM_004820.5:c.94G>T MANE Select	NP_004811.1:p.Ala32Ser
NM_001324112.2:c.94G>T	NP_001311041.1:p.Ala32Ser