Canonical Allele Identifier: CA461120849

Gene: CYP7B1

Linked Data

• dbSNP Id: rs1805576608
• MyVariant Identifiers: chr8:g.65536994C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.64624437C>T , CM000670.2:g.64624437C>T	GRCh38
NC_000008.10:g.65536994C>T , CM000670.1:g.65536994C>T	GRCh37
NC_000008.9:g.65699548C>T	NCBI36
NG_008338.1:g.179355G>A
NG_008338.2:g.179355G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310193.4:c.225G>A MANE Select	ENSP00000310721.3:p.Lys75=
ENST00000310193.3:c.225G>A	ENSP00000310721.3:p.Lys75=
NM_004820.3:c.225G>A	NP_004811.1:p.Lys75=
NM_001324112.1:c.225G>A	NP_001311041.1:p.Lys75=
NM_004820.4:c.225G>A	NP_004811.1:p.Lys75=
XM_017014002.1:c.291G>A	XP_016869491.1:p.Lys97=
NM_004820.5:c.225G>A MANE Select	NP_004811.1:p.Lys75=
NM_001324112.2:c.225G>A	NP_001311041.1:p.Lys75=