Canonical Allele Identifier: CA461121026
Gene: CYP7B1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1638543
ClinVar RCV Id: RCV002126257 RCV003978842
dbSNP Id: rs763202430
gnomAD v2: 8-65537042-G-C
gnomAD v4: 8-64624485-G-C
MyVariant Identifiers: chr8:g.65537042G>C (hg19) chr8:g.64624485G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.64624485G>C , CM000670.2:g.64624485G>C GRCh38
NC_000008.10:g.65537042G>C , CM000670.1:g.65537042G>C GRCh37
NC_000008.9:g.65699596G>C NCBI36
NG_008338.1:g.179307C>G
NG_008338.2:g.179307C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000310193.4:c.177C>G MANE Select ENSP00000310721.3:p.Val59=
ENST00000310193.3:c.177C>G ENSP00000310721.3:p.Val59=
NM_004820.3:c.177C>G NP_004811.1:p.Val59=
NM_001324112.1:c.177C>G NP_001311041.1:p.Val59=
NM_004820.4:c.177C>G NP_004811.1:p.Val59=
XM_017014002.1:c.243C>G XP_016869491.1:p.Val81=
NM_004820.5:c.177C>G MANE Select NP_004811.1:p.Val59=
NM_001324112.2:c.177C>G NP_001311041.1:p.Val59=
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