Canonical Allele Identifier: CA4764054
Gene: CYP7B1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2799932
ClinVar RCV Id: RCV003751238
dbSNP Id: rs762842997
ExAC: 8:65517392 TA / T
gnomAD v2: 8-65517392-TA-T
gnomAD v3: 8-64604835-TA-T
gnomAD v4: 8-64604835-TA-T
MyVariant Identifiers: chr8:g.65517393del (hg19) chr8:g.64604836del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.64604838del , CM000670.2:g.64604838del GRCh38
NC_000008.10:g.65517395del , CM000670.1:g.65517395del GRCh37
NC_000008.9:g.65679949del NCBI36
NG_008338.1:g.198956del
NG_008338.2:g.198956del

Transcript Alleles

HGVS Amino-acid change
ENST00000310193.4:c.1079del MANE Select ENSP00000310721.3:p.Leu360TyrfsTer17
ENST00000310193.3:c.1079del ENSP00000310721.3:p.Leu360TyrfsTer17
ENST00000523954.1:n.353del
NM_004820.3:c.1079del NP_004811.1:p.Leu360TyrfsTer17
NM_001324112.1:c.1079del NP_001311041.1:p.Leu360TyrfsTer17
NM_004820.4:c.1079del NP_004811.1:p.Leu360TyrfsTer17
XM_017014002.1:c.1145del XP_016869491.1:p.Leu382TyrfsTer17
NM_004820.5:c.1079del MANE Select NP_004811.1:p.Leu360TyrfsTer17
NM_001324112.2:c.1079del NP_001311041.1:p.Leu360TyrfsTer17
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