Canonical Allele Identifier: CA461420418

Gene: CYP7B1

Linked Data

• gnomAD v4: 8-64616081-A-G
• MyVariant Identifiers: chr8:g.65528638A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.64616081A>G , CM000670.2:g.64616081A>G	GRCh38
NC_000008.10:g.65528638A>G , CM000670.1:g.65528638A>G	GRCh37
NC_000008.9:g.65691192A>G	NCBI36
NG_008338.1:g.187711T>C
NG_008338.2:g.187711T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310193.4:c.460T>C MANE Select	ENSP00000310721.3:p.Leu154=
ENST00000310193.3:c.460T>C	ENSP00000310721.3:p.Leu154=
NM_004820.3:c.460T>C	NP_004811.1:p.Leu154=
NM_001324112.1:c.460T>C	NP_001311041.1:p.Leu154=
NM_004820.4:c.460T>C	NP_004811.1:p.Leu154=
XM_017014002.1:c.526T>C	XP_016869491.1:p.Leu176=
NM_004820.5:c.460T>C MANE Select	NP_004811.1:p.Leu154=
NM_001324112.2:c.460T>C	NP_001311041.1:p.Leu154=