Canonical Allele Identifier: CA461120974

Gene: CYP7B1

Linked Data

• ClinVar Variation Id: 3004936
• ClinVar RCV Id: RCV003861039
• MyVariant Identifiers: chr8:g.65537027T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.64624470T>C , CM000670.2:g.64624470T>C	GRCh38
NC_000008.10:g.65537027T>C , CM000670.1:g.65537027T>C	GRCh37
NC_000008.9:g.65699581T>C	NCBI36
NG_008338.1:g.179322A>G
NG_008338.2:g.179322A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310193.4:c.192A>G MANE Select	ENSP00000310721.3:p.Lys64=
ENST00000310193.3:c.192A>G	ENSP00000310721.3:p.Lys64=
NM_004820.3:c.192A>G	NP_004811.1:p.Lys64=
NM_001324112.1:c.192A>G	NP_001311041.1:p.Lys64=
NM_004820.4:c.192A>G	NP_004811.1:p.Lys64=
XM_017014002.1:c.258A>G	XP_016869491.1:p.Lys86=
NM_004820.5:c.192A>G MANE Select	NP_004811.1:p.Lys64=
NM_001324112.2:c.192A>G	NP_001311041.1:p.Lys64=