Canonical Allele Identifier: CA582409094
Gene: CYP7B1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2735180
ClinVar RCV Id: RCV003588485
dbSNP Id: rs1218240557
gnomAD v2: 8-65536968-AG-A
gnomAD v4: 8-64624411-AG-A
MyVariant Identifiers: chr8:g.65536969del (hg19) chr8:g.64624412del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.64624412del , CM000670.2:g.64624412del GRCh38
NC_000008.10:g.65536969del , CM000670.1:g.65536969del GRCh37
NC_000008.9:g.65699523del NCBI36
NG_008338.1:g.179380del
NG_008338.2:g.179380del

Transcript Alleles

HGVS Amino-acid Change
ENST00000310193.4:c.250del MANE Select ENSP00000310721.3:p.Leu84PhefsTer7
ENST00000310193.3:c.250del ENSP00000310721.3:p.Leu84PhefsTer7
NM_004820.3:c.250del NP_004811.1:p.Leu84PhefsTer7
NM_001324112.1:c.250del NP_001311041.1:p.Leu84PhefsTer7
NM_004820.4:c.250del NP_004811.1:p.Leu84PhefsTer7
XM_017014002.1:c.316del XP_016869491.1:p.Leu106PhefsTer7
NM_004820.5:c.250del MANE Select NP_004811.1:p.Leu84PhefsTer7
NM_001324112.2:c.250del NP_001311041.1:p.Leu84PhefsTer7
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