Canonical Allele Identifier: CA4764088

Gene: CYP7B1

Linked Data

• ClinVar Variation Id: 363581
• ClinVar RCV Id: RCV000319168 ; RCV001861331
• dbSNP Id: rs757698965
• ExAC: 8:65527622 G / A
• gnomAD v2: 8-65527622-G-A
• gnomAD v4: 8-64615065-G-A
• MyVariant Identifiers: chr8:g.65527622G>A (hg19) ; chr8:g.64615065G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.64615065G>A , CM000670.2:g.64615065G>A	GRCh38
NC_000008.10:g.65527622G>A , CM000670.1:g.65527622G>A	GRCh37
NC_000008.9:g.65690176G>A	NCBI36
NG_008338.1:g.188727C>T
NG_008338.2:g.188727C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310193.4:c.1018C>T MANE Select	ENSP00000310721.3:p.His340Tyr
ENST00000310193.3:c.1018C>T	ENSP00000310721.3:p.His340Tyr
ENST00000523954.1:n.292C>T
NM_004820.3:c.1018C>T	NP_004811.1:p.His340Tyr
NM_001324112.1:c.1018C>T	NP_001311041.1:p.His340Tyr
NM_004820.4:c.1018C>T	NP_004811.1:p.His340Tyr
XM_017014002.1:c.1084C>T	XP_016869491.1:p.His362Tyr
NM_004820.5:c.1018C>T MANE Select	NP_004811.1:p.His340Tyr
NM_001324112.2:c.1018C>T	NP_001311041.1:p.His340Tyr