Canonical Allele Identifier: CA371338297
Gene: CYP7B1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.64624429C>A , CM000670.2:g.64624429C>A GRCh38
NC_000008.10:g.65536986C>A , CM000670.1:g.65536986C>A GRCh37
NC_000008.9:g.65699540C>A NCBI36
NG_008338.1:g.179363G>T
NG_008338.2:g.179363G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000310193.4:c.233G>T MANE Select ENSP00000310721.3:p.Gly78Val
ENST00000310193.3:c.233G>T ENSP00000310721.3:p.Gly78Val
NM_004820.3:c.233G>T NP_004811.1:p.Gly78Val
NM_001324112.1:c.233G>T NP_001311041.1:p.Gly78Val
NM_004820.4:c.233G>T NP_004811.1:p.Gly78Val
XM_017014002.1:c.299G>T XP_016869491.1:p.Gly100Val
NM_004820.5:c.233G>T MANE Select NP_004811.1:p.Gly78Val
NM_001324112.2:c.233G>T NP_001311041.1:p.Gly78Val