Canonical Allele Identifier: CA461420348
Gene: CYP7B1 HGNC NCBI

Linked Data

dbSNP Id: rs1805439362
MyVariant Identifiers: chr8:g.65528582G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.64616025G>A , CM000670.2:g.64616025G>A GRCh38
NC_000008.10:g.65528582G>A , CM000670.1:g.65528582G>A GRCh37
NC_000008.9:g.65691136G>A NCBI36
NG_008338.1:g.187767C>T
NG_008338.2:g.187767C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000310193.4:c.516C>T MANE Select ENSP00000310721.3:p.Thr172=
ENST00000310193.3:c.516C>T ENSP00000310721.3:p.Thr172=
NM_004820.3:c.516C>T NP_004811.1:p.Thr172=
NM_001324112.1:c.516C>T NP_001311041.1:p.Thr172=
NM_004820.4:c.516C>T NP_004811.1:p.Thr172=
XM_017014002.1:c.582C>T XP_016869491.1:p.Thr194=
NM_004820.5:c.516C>T MANE Select NP_004811.1:p.Thr172=
NM_001324112.2:c.516C>T NP_001311041.1:p.Thr172=