Canonical Allele Identifier: CA371335751

Gene: CYP7B1

Linked Data

• MyVariant Identifiers: chr8:g.65528661T>A (hg19) ; chr8:g.64616104T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.64616104T>A , CM000670.2:g.64616104T>A	GRCh38
NC_000008.10:g.65528661T>A , CM000670.1:g.65528661T>A	GRCh37
NC_000008.9:g.65691215T>A	NCBI36
NG_008338.1:g.187688A>T
NG_008338.2:g.187688A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310193.4:c.437A>T MANE Select	ENSP00000310721.3:p.Gln146Leu
ENST00000310193.3:c.437A>T	ENSP00000310721.3:p.Gln146Leu
NM_004820.3:c.437A>T	NP_004811.1:p.Gln146Leu
NM_001324112.1:c.437A>T	NP_001311041.1:p.Gln146Leu
NM_004820.4:c.437A>T	NP_004811.1:p.Gln146Leu
XM_017014002.1:c.503A>T	XP_016869491.1:p.Gln168Leu
NM_004820.5:c.437A>T MANE Select	NP_004811.1:p.Gln146Leu
NM_001324112.2:c.437A>T	NP_001311041.1:p.Gln146Leu