Canonical Allele Identifier: CA4764288

Gene: CYP7B1

Linked Data

• ClinVar Variation Id: 288985
• ClinVar RCV Id: RCV000321175 ; RCV000353958 ; RCV001321782 ; RCV003417908
• dbSNP Id: rs375384257
• ExAC: 8:65537094 C / T
• gnomAD v2: 8-65537094-C-T
• gnomAD v3: 8-64624537-C-T
• gnomAD v4: 8-64624537-C-T
• MyVariant Identifiers: chr8:g.65537094C>T (hg19) ; chr8:g.64624537C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.64624537C>T , CM000670.2:g.64624537C>T	GRCh38
NC_000008.10:g.65537094C>T , CM000670.1:g.65537094C>T	GRCh37
NC_000008.9:g.65699648C>T	NCBI36
NG_008338.1:g.179255G>A
NG_008338.2:g.179255G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310193.4:c.125G>A MANE Select	ENSP00000310721.3:p.Arg42Lys
ENST00000310193.3:c.125G>A	ENSP00000310721.3:p.Arg42Lys
NM_004820.3:c.125G>A	NP_004811.1:p.Arg42Lys
NM_001324112.1:c.125G>A	NP_001311041.1:p.Arg42Lys
NM_004820.4:c.125G>A	NP_004811.1:p.Arg42Lys
XM_017014002.1:c.191G>A	XP_016869491.1:p.Arg64Lys
NM_004820.5:c.125G>A MANE Select	NP_004811.1:p.Arg42Lys
NM_001324112.2:c.125G>A	NP_001311041.1:p.Arg42Lys