Canonical Allele Identifier: CA854272795
Gene: CYP7B1 HGNC NCBI

Linked Data

dbSNP Id: rs1358770572
gnomAD v3: 8-64624295-T-TA
gnomAD v4: 8-64624295-T-TA
MyVariant Identifiers: chr8:g.65536852_65536853insA (hg19) chr8:g.64624295_64624296insA (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.64624300dup , CM000670.2:g.64624300dup GRCh38
NC_000008.10:g.65536857dup , CM000670.1:g.65536857dup GRCh37
NC_000008.9:g.65699411dup NCBI36
NG_008338.1:g.179496dup
NG_008338.2:g.179496dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000310193.4:c.259+107dup MANE Select ENSP00000310721.3:n.259+107dup
ENST00000310193.3:c.259+107dup ENSP00000310721.3:n.259+107dup
NM_004820.3:c.259+107dup NP_004811.1:n.259+107dup
NM_001324112.1:c.259+107dup NP_001311041.1:n.259+107dup
NM_004820.4:c.259+107dup NP_004811.1:n.259+107dup
XM_017014002.1:c.325+107dup XP_016869491.1:n.325+107dup
NM_004820.5:c.259+107dup MANE Select NP_004811.1:n.259+107dup
NM_001324112.2:c.259+107dup NP_001311041.1:n.259+107dup
Search 100 bp 5'
Search 100 bp 3'