Canonical Allele Identifier: CA2687454782
Gene: CYP7B1 HGNC NCBI

Linked Data

gnomAD v4: 8-64624272-C-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.64624272C>T , CM000670.2:g.64624272C>T GRCh38
NC_000008.10:g.65536829C>T , CM000670.1:g.65536829C>T GRCh37
NC_000008.9:g.65699383C>T NCBI36
NG_008338.1:g.179520G>A
NG_008338.2:g.179520G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000310193.4:c.259+131G>A MANE Select ENSP00000310721.3:n.259+131G>A
ENST00000310193.3:c.259+131G>A ENSP00000310721.3:n.259+131G>A
NM_004820.3:c.259+131G>A NP_004811.1:n.259+131G>A
NM_001324112.1:c.259+131G>A NP_001311041.1:n.259+131G>A
NM_004820.4:c.259+131G>A NP_004811.1:n.259+131G>A
XM_017014002.1:c.325+131G>A XP_016869491.1:n.325+131G>A
NM_004820.5:c.259+131G>A MANE Select NP_004811.1:n.259+131G>A
NM_001324112.2:c.259+131G>A NP_001311041.1:n.259+131G>A
Search 100 bp 5'
Search 100 bp 3'