Canonical Allele Identifier: CA4764028

Gene: CYP7B1

Linked Data

• ClinVar Variation Id: 363580
• ClinVar RCV Id: RCV000329992 ; RCV001850926
• dbSNP Id: rs369566738
• ExAC: 8:65517239 C / T
• gnomAD v2: 8-65517239-C-T
• gnomAD v3: 8-64604682-C-T
• gnomAD v4: 8-64604682-C-T
• MyVariant Identifiers: chr8:g.65517239C>T (hg19) ; chr8:g.64604682C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.64604682C>T , CM000670.2:g.64604682C>T	GRCh38
NC_000008.10:g.65517239C>T , CM000670.1:g.65517239C>T	GRCh37
NC_000008.9:g.65679793C>T	NCBI36
NG_008338.1:g.199110G>A
NG_008338.2:g.199110G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310193.4:c.1233G>A MANE Select	ENSP00000310721.3:p.Glu411=
ENST00000310193.3:c.1233G>A	ENSP00000310721.3:p.Glu411=
ENST00000523954.1:n.507G>A
NM_004820.3:c.1233G>A	NP_004811.1:p.Glu411=
NM_001324112.1:c.1233G>A	NP_001311041.1:p.Glu411=
NM_004820.4:c.1233G>A	NP_004811.1:p.Glu411=
XM_017014002.1:c.1299G>A	XP_016869491.1:p.Glu433=
NM_004820.5:c.1233G>A MANE Select	NP_004811.1:p.Glu411=
NM_001324112.2:c.1233G>A	NP_001311041.1:p.Glu411=