Canonical Allele Identifier: CA4764275

Gene: CYP7B1

Linked Data

• ClinVar Variation Id: 488846
• ClinVar RCV Id: RCV000579004 ; RCV000800946 ; RCV003993670
• dbSNP Id: rs746979262
• ExAC: 8:65537032 G / A
• gnomAD v2: 8-65537032-G-A
• gnomAD v3: 8-64624475-G-A
• gnomAD v4: 8-64624475-G-A
• COSMIC: COSM211434
• MyVariant Identifiers: chr8:g.65537032G>A (hg19) ; chr8:g.64624475G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.64624475G>A , CM000670.2:g.64624475G>A	GRCh38
NC_000008.10:g.65537032G>A , CM000670.1:g.65537032G>A	GRCh37
NC_000008.9:g.65699586G>A	NCBI36
NG_008338.1:g.179317C>T
NG_008338.2:g.179317C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310193.4:c.187C>T MANE Select	ENSP00000310721.3:p.Arg63Ter
ENST00000310193.3:c.187C>T	ENSP00000310721.3:p.Arg63Ter
NM_004820.3:c.187C>T	NP_004811.1:p.Arg63Ter
NM_001324112.1:c.187C>T	NP_001311041.1:p.Arg63Ter
NM_004820.4:c.187C>T	NP_004811.1:p.Arg63Ter
XM_017014002.1:c.253C>T	XP_016869491.1:p.Arg85Ter
NM_004820.5:c.187C>T MANE Select	NP_004811.1:p.Arg63Ter
NM_001324112.2:c.187C>T	NP_001311041.1:p.Arg63Ter