Canonical Allele Identifier: CA4764037
Gene: CYP7B1 HGNC NCBI

Linked Data

dbSNP Id: rs752486045
ExAC: 8:65517292 C / T
gnomAD v2: 8-65517292-C-T
gnomAD v3: 8-64604735-C-T
gnomAD v4: 8-64604735-C-T
MyVariant Identifiers: chr8:g.65517292C>T (hg19) chr8:g.64604735C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.64604735C>T , CM000670.2:g.64604735C>T GRCh38
NC_000008.10:g.65517292C>T , CM000670.1:g.65517292C>T GRCh37
NC_000008.9:g.65679846C>T NCBI36
NG_008338.1:g.199057G>A
NG_008338.2:g.199057G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000310193.4:c.1180G>A MANE Select ENSP00000310721.3:p.Ala394Thr
ENST00000310193.3:c.1180G>A ENSP00000310721.3:p.Ala394Thr
ENST00000523954.1:n.454G>A
NM_004820.3:c.1180G>A NP_004811.1:p.Ala394Thr
NM_001324112.1:c.1180G>A NP_001311041.1:p.Ala394Thr
NM_004820.4:c.1180G>A NP_004811.1:p.Ala394Thr
XM_017014002.1:c.1246G>A XP_016869491.1:p.Ala416Thr
NM_004820.5:c.1180G>A MANE Select NP_004811.1:p.Ala394Thr
NM_001324112.2:c.1180G>A NP_001311041.1:p.Ala394Thr
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