Canonical Allele Identifier: CA210941
Gene: CYP7B1 HGNC NCBI

Linked Data

ClinVar Variation Id: 6102
ClinVar RCV Id: RCV000006476
dbSNP Id: rs121908614
gnomAD v2: 8-65537050-C-T
gnomAD v3: 8-64624493-C-T
gnomAD v4: 8-64624493-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.64624493C>T , CM000670.2:g.64624493C>T GRCh38
NC_000008.10:g.65537050C>T , CM000670.1:g.65537050C>T GRCh37
NC_000008.9:g.65699604C>T NCBI36
NG_008338.1:g.179299G>A
NG_008338.2:g.179299G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000310193.4:c.169G>A MANE Select ENSP00000310721.3:p.Gly57Arg
ENST00000310193.3:c.169G>A ENSP00000310721.3:p.Gly57Arg
NM_004820.3:c.169G>A NP_004811.1:p.Gly57Arg
NM_001324112.1:c.169G>A NP_001311041.1:p.Gly57Arg
NM_004820.4:c.169G>A NP_004811.1:p.Gly57Arg
XM_017014002.1:c.235G>A XP_016869491.1:p.Gly79Arg
NM_004820.5:c.169G>A MANE Select NP_004811.1:p.Gly57Arg
NM_001324112.2:c.169G>A NP_001311041.1:p.Gly57Arg