Canonical Allele Identifier: CA4764210
Gene: CYP7B1 HGNC NCBI

Linked Data

ClinVar Variation Id: 381743
dbSNP Id: rs754730601
gnomAD v2: 8-65528658-C-T
gnomAD v4: 8-64616101-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.64616101C>T , CM000670.2:g.64616101C>T GRCh38
NC_000008.10:g.65528658C>T , CM000670.1:g.65528658C>T GRCh37
NC_000008.9:g.65691212C>T NCBI36
NG_008338.1:g.187691G>A
NG_008338.2:g.187691G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000310193.4:c.440G>A MANE Select ENSP00000310721.3:p.Gly147Asp
ENST00000310193.3:c.440G>A ENSP00000310721.3:p.Gly147Asp
NM_004820.3:c.440G>A NP_004811.1:p.Gly147Asp
NM_001324112.1:c.440G>A NP_001311041.1:p.Gly147Asp
NM_004820.4:c.440G>A NP_004811.1:p.Gly147Asp
XM_017014002.1:c.506G>A XP_016869491.1:p.Gly169Asp
NM_004820.5:c.440G>A MANE Select NP_004811.1:p.Gly147Asp
NM_001324112.2:c.440G>A NP_001311041.1:p.Gly147Asp