Canonical Allele Identifier: CA582409075
Gene: CYP7B1 HGNC NCBI

Linked Data

dbSNP Id: rs1177135113
gnomAD v2: 8-65536903-TA-T
gnomAD v3: 8-64624346-TA-T
gnomAD v4: 8-64624346-TA-T
MyVariant Identifiers: chr8:g.65536904del (hg19) chr8:g.64624347del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.64624349del , CM000670.2:g.64624349del GRCh38
NC_000008.10:g.65536906del , CM000670.1:g.65536906del GRCh37
NC_000008.9:g.65699460del NCBI36
NG_008338.1:g.179445del
NG_008338.2:g.179445del

Transcript Alleles

HGVS Amino-acid Change
ENST00000310193.4:c.259+56del MANE Select ENSP00000310721.3:n.259+56del
ENST00000310193.3:c.259+56del ENSP00000310721.3:n.259+56del
NM_004820.3:c.259+56del NP_004811.1:n.259+56del
NM_001324112.1:c.259+56del NP_001311041.1:n.259+56del
NM_004820.4:c.259+56del NP_004811.1:n.259+56del
XM_017014002.1:c.325+56del XP_016869491.1:n.325+56del
NM_004820.5:c.259+56del MANE Select NP_004811.1:n.259+56del
NM_001324112.2:c.259+56del NP_001311041.1:n.259+56del
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