Canonical Allele Identifier: CA2740095057
Gene: CYP7B1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2977390
ClinVar RCV Id: RCV003831508
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.64616124del , CM000670.2:g.64616124del GRCh38
NC_000008.10:g.65528681del , CM000670.1:g.65528681del GRCh37
NC_000008.9:g.65691235del NCBI36
NG_008338.1:g.187669del
NG_008338.2:g.187669del

Transcript Alleles

HGVS Amino-acid Change
ENST00000310193.4:c.418del MANE Select ENSP00000310721.3:p.Leu140SerfsTer18
ENST00000310193.3:c.418del ENSP00000310721.3:p.Leu140SerfsTer18
NM_004820.3:c.418del NP_004811.1:p.Leu140SerfsTer18
NM_001324112.1:c.418del NP_001311041.1:p.Leu140SerfsTer18
NM_004820.4:c.418del NP_004811.1:p.Leu140SerfsTer18
XM_017014002.1:c.484del XP_016869491.1:p.Leu162SerfsTer18
NM_004820.5:c.418del MANE Select NP_004811.1:p.Leu140SerfsTer18
NM_001324112.2:c.418del NP_001311041.1:p.Leu140SerfsTer18
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