Canonical Allele Identifier: CA371334094
Gene: CYP7B1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2039922
ClinVar RCV Id: RCV002886125
dbSNP Id: rs1473631146
gnomAD v2: 8-65517289-T-C
gnomAD v3: 8-64604732-T-C
gnomAD v4: 8-64604732-T-C
MyVariant Identifiers: chr8:g.65517289T>C (hg19) chr8:g.64604732T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.64604732T>C , CM000670.2:g.64604732T>C GRCh38
NC_000008.10:g.65517289T>C , CM000670.1:g.65517289T>C GRCh37
NC_000008.9:g.65679843T>C NCBI36
NG_008338.1:g.199060A>G
NG_008338.2:g.199060A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000310193.4:c.1183A>G MANE Select ENSP00000310721.3:p.Ile395Val
ENST00000310193.3:c.1183A>G ENSP00000310721.3:p.Ile395Val
ENST00000523954.1:n.457A>G
NM_004820.3:c.1183A>G NP_004811.1:p.Ile395Val
NM_001324112.1:c.1183A>G NP_001311041.1:p.Ile395Val
NM_004820.4:c.1183A>G NP_004811.1:p.Ile395Val
XM_017014002.1:c.1249A>G XP_016869491.1:p.Ile417Val
NM_004820.5:c.1183A>G MANE Select NP_004811.1:p.Ile395Val
NM_001324112.2:c.1183A>G NP_001311041.1:p.Ile395Val
Search 100 bp 5'
Search 100 bp 3'