Canonical Allele Identifier: CA210941

Gene: CYP7B1

Linked Data

• ClinVar Variation Id: 6102
• ClinVar RCV Id: RCV000006476
• dbSNP Id: rs121908614
• gnomAD v2: 8-65537050-C-T
• gnomAD v3: 8-64624493-C-T
• gnomAD v4: 8-64624493-C-T
• MyVariant Identifiers: chr8:g.65537050C>T (hg19) ; chr8:g.64624493C>T (hg38)
• PubMed: PMID:7987300 ; PMID:18252231 ; PMID:19187859

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.64624493C>T , CM000670.2:g.64624493C>T	GRCh38
NC_000008.10:g.65537050C>T , CM000670.1:g.65537050C>T	GRCh37
NC_000008.9:g.65699604C>T	NCBI36
NG_008338.1:g.179299G>A
NG_008338.2:g.179299G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310193.4:c.169G>A MANE Select	ENSP00000310721.3:p.Gly57Arg
ENST00000310193.3:c.169G>A	ENSP00000310721.3:p.Gly57Arg
NM_004820.3:c.169G>A	NP_004811.1:p.Gly57Arg
NM_001324112.1:c.169G>A	NP_001311041.1:p.Gly57Arg
NM_004820.4:c.169G>A	NP_004811.1:p.Gly57Arg
XM_017014002.1:c.235G>A	XP_016869491.1:p.Gly79Arg
NM_004820.5:c.169G>A MANE Select	NP_004811.1:p.Gly57Arg
NM_001324112.2:c.169G>A	NP_001311041.1:p.Gly57Arg