Canonical Allele Identifier: CA350581
Gene: CYP7B1 HGNC NCBI

Linked Data

ClinVar Variation Id: 219912
dbSNP Id: rs200737038
gnomAD v2: 8-65528764-G-A
gnomAD v3: 8-64616207-G-A
gnomAD v4: 8-64616207-G-A

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