Canonical Allele Identifier: CA178391957
Gene: CYP7B1 HGNC NCBI

Linked Data

ClinVar Variation Id: 989023
ClinVar RCV Id: RCV001391401
dbSNP Id: rs961524982
gnomAD v3: 8-64624511-C-G
gnomAD v4: 8-64624511-C-G
MyVariant Identifiers: chr8:g.65537068C>G (hg19) chr8:g.64624511C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.64624511C>G , CM000670.2:g.64624511C>G GRCh38
NC_000008.10:g.65537068C>G , CM000670.1:g.65537068C>G GRCh37
NC_000008.9:g.65699622C>G NCBI36
NG_008338.1:g.179281G>C
NG_008338.2:g.179281G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000310193.4:c.151G>C MANE Select ENSP00000310721.3:p.Gly51Arg
ENST00000310193.3:c.151G>C ENSP00000310721.3:p.Gly51Arg
NM_004820.3:c.151G>C NP_004811.1:p.Gly51Arg
NM_001324112.1:c.151G>C NP_001311041.1:p.Gly51Arg
NM_004820.4:c.151G>C NP_004811.1:p.Gly51Arg
XM_017014002.1:c.217G>C XP_016869491.1:p.Gly73Arg
NM_004820.5:c.151G>C MANE Select NP_004811.1:p.Gly51Arg
NM_001324112.2:c.151G>C NP_001311041.1:p.Gly51Arg
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