Canonical Allele Identifier: CA461118248
Gene: CYP7B1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr8:g.65517308T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.64604751T>A , CM000670.2:g.64604751T>A GRCh38
NC_000008.10:g.65517308T>A , CM000670.1:g.65517308T>A GRCh37
NC_000008.9:g.65679862T>A NCBI36
NG_008338.1:g.199041A>T
NG_008338.2:g.199041A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000310193.4:c.1164A>T MANE Select ENSP00000310721.3:p.Arg388=
ENST00000310193.3:c.1164A>T ENSP00000310721.3:p.Arg388=
ENST00000523954.1:n.438A>T
NM_004820.3:c.1164A>T NP_004811.1:p.Arg388=
NM_001324112.1:c.1164A>T NP_001311041.1:p.Arg388=
NM_004820.4:c.1164A>T NP_004811.1:p.Arg388=
XM_017014002.1:c.1230A>T XP_016869491.1:p.Arg410=
NM_004820.5:c.1164A>T MANE Select NP_004811.1:p.Arg388=
NM_001324112.2:c.1164A>T NP_001311041.1:p.Arg388=