Canonical Allele Identifier: CA461120877

Gene: CYP7B1

Linked Data

• dbSNP Id: rs778264635
• gnomAD v4: 8-64624446-T-G
• MyVariant Identifiers: chr8:g.65537003T>G (hg19) ; chr8:g.64624446T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.64624446T>G , CM000670.2:g.64624446T>G	GRCh38
NC_000008.10:g.65537003T>G , CM000670.1:g.65537003T>G	GRCh37
NC_000008.9:g.65699557T>G	NCBI36
NG_008338.1:g.179346A>C
NG_008338.2:g.179346A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310193.4:c.216A>C MANE Select	ENSP00000310721.3:p.Thr72=
ENST00000310193.3:c.216A>C	ENSP00000310721.3:p.Thr72=
NM_004820.3:c.216A>C	NP_004811.1:p.Thr72=
NM_001324112.1:c.216A>C	NP_001311041.1:p.Thr72=
NM_004820.4:c.216A>C	NP_004811.1:p.Thr72=
XM_017014002.1:c.282A>C	XP_016869491.1:p.Thr94=
NM_004820.5:c.216A>C MANE Select	NP_004811.1:p.Thr72=
NM_001324112.2:c.216A>C	NP_001311041.1:p.Thr72=