Canonical Allele Identifier: CA350581

Gene: CYP7B1

Linked Data

• ClinVar Variation Id: 219912
• ClinVar RCV Id: RCV000206556 ; RCV000210595 ; RCV000729706 ; RCV001312060 ; RCV001847930
• dbSNP Id: rs200737038
• ExAC: 8:65528764 G / A
• gnomAD v2: 8-65528764-G-A
• gnomAD v3: 8-64616207-G-A
• gnomAD v4: 8-64616207-G-A
• COSMIC: COSM4488583
• MyVariant Identifiers: chr8:g.65528764G>A (hg19) ; chr8:g.64616207G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.64616207G>A , CM000670.2:g.64616207G>A	GRCh38
NC_000008.10:g.65528764G>A , CM000670.1:g.65528764G>A	GRCh37
NC_000008.9:g.65691318G>A	NCBI36
NG_008338.1:g.187585C>T
NG_008338.2:g.187585C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310193.4:c.334C>T MANE Select	ENSP00000310721.3:p.Arg112Ter
ENST00000310193.3:c.334C>T	ENSP00000310721.3:p.Arg112Ter
NM_004820.3:c.334C>T	NP_004811.1:p.Arg112Ter
NM_001324112.1:c.334C>T	NP_001311041.1:p.Arg112Ter
NM_004820.4:c.334C>T	NP_004811.1:p.Arg112Ter
XM_017014002.1:c.400C>T	XP_016869491.1:p.Arg134Ter
NM_004820.5:c.334C>T MANE Select	NP_004811.1:p.Arg112Ter
NM_001324112.2:c.334C>T	NP_001311041.1:p.Arg112Ter