Canonical Allele Identifier: CA210940

Gene: CYP7B1

Linked Data

• ClinVar Variation Id: 6101
• ClinVar RCV Id: RCV000006475 ; RCV001847590 ; RCV003750776
• dbSNP Id: rs121908610
• ExAC: 8:65517384 G / A
• gnomAD v2: 8-65517384-G-A
• gnomAD v3: 8-64604827-G-A
• gnomAD v4: 8-64604827-G-A
• COSMIC: COSM1673935
• MyVariant Identifiers: chr8:g.65517384G>A (hg19) ; chr8:g.64604827G>A (hg38)
• PubMed: PMID:12874406 ; PMID:18252231

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.64604827G>A , CM000670.2:g.64604827G>A	GRCh38
NC_000008.10:g.65517384G>A , CM000670.1:g.65517384G>A	GRCh37
NC_000008.9:g.65679938G>A	NCBI36
NG_008338.1:g.198965C>T
NG_008338.2:g.198965C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310193.4:c.1088C>T MANE Select	ENSP00000310721.3:p.Ser363Phe
ENST00000310193.3:c.1088C>T	ENSP00000310721.3:p.Ser363Phe
ENST00000523954.1:n.362C>T
NM_004820.3:c.1088C>T	NP_004811.1:p.Ser363Phe
NM_001324112.1:c.1088C>T	NP_001311041.1:p.Ser363Phe
NM_004820.4:c.1088C>T	NP_004811.1:p.Ser363Phe
XM_017014002.1:c.1154C>T	XP_016869491.1:p.Ser385Phe
NM_004820.5:c.1088C>T MANE Select	NP_004811.1:p.Ser363Phe
NM_001324112.2:c.1088C>T	NP_001311041.1:p.Ser363Phe