Canonical Allele Identifier: CA461118225
Gene: CYP7B1 HGNC NCBI

Linked Data

COSMIC: COSM750995
MyVariant Identifiers: chr8:g.65517287G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.64604730G>T , CM000670.2:g.64604730G>T GRCh38
NC_000008.10:g.65517287G>T , CM000670.1:g.65517287G>T GRCh37
NC_000008.9:g.65679841G>T NCBI36
NG_008338.1:g.199062C>A
NG_008338.2:g.199062C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000310193.4:c.1185C>A MANE Select ENSP00000310721.3:p.Ile395=
ENST00000310193.3:c.1185C>A ENSP00000310721.3:p.Ile395=
ENST00000523954.1:n.459C>A
NM_004820.3:c.1185C>A NP_004811.1:p.Ile395=
NM_001324112.1:c.1185C>A NP_001311041.1:p.Ile395=
NM_004820.4:c.1185C>A NP_004811.1:p.Ile395=
XM_017014002.1:c.1251C>A XP_016869491.1:p.Ile417=
NM_004820.5:c.1185C>A MANE Select NP_004811.1:p.Ile395=
NM_001324112.2:c.1185C>A NP_001311041.1:p.Ile395=