Canonical Allele Identifier: CA371339013

Gene: CYP7B1

Linked Data

• MyVariant Identifiers: chr8:g.65537086C>T (hg19) ; chr8:g.64624529C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.64624529C>T , CM000670.2:g.64624529C>T	GRCh38
NC_000008.10:g.65537086C>T , CM000670.1:g.65537086C>T	GRCh37
NC_000008.9:g.65699640C>T	NCBI36
NG_008338.1:g.179263G>A
NG_008338.2:g.179263G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310193.4:c.133G>A MANE Select	ENSP00000310721.3:p.Glu45Lys
ENST00000310193.3:c.133G>A	ENSP00000310721.3:p.Glu45Lys
NM_004820.3:c.133G>A	NP_004811.1:p.Glu45Lys
NM_001324112.1:c.133G>A	NP_001311041.1:p.Glu45Lys
NM_004820.4:c.133G>A	NP_004811.1:p.Glu45Lys
XM_017014002.1:c.199G>A	XP_016869491.1:p.Glu67Lys
NM_004820.5:c.133G>A MANE Select	NP_004811.1:p.Glu45Lys
NM_001324112.2:c.133G>A	NP_001311041.1:p.Glu45Lys