Canonical Allele Identifier: CA461118228

Gene: CYP7B1

Linked Data

• MyVariant Identifiers: chr8:g.65517290G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.64604733G>A , CM000670.2:g.64604733G>A	GRCh38
NC_000008.10:g.65517290G>A , CM000670.1:g.65517290G>A	GRCh37
NC_000008.9:g.65679844G>A	NCBI36
NG_008338.1:g.199059C>T
NG_008338.2:g.199059C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000310193.4:c.1182C>T MANE Select	ENSP00000310721.3:p.Ala394=
ENST00000310193.3:c.1182C>T	ENSP00000310721.3:p.Ala394=
ENST00000523954.1:n.456C>T
NM_004820.3:c.1182C>T	NP_004811.1:p.Ala394=
NM_001324112.1:c.1182C>T	NP_001311041.1:p.Ala394=
NM_004820.4:c.1182C>T	NP_004811.1:p.Ala394=
XM_017014002.1:c.1248C>T	XP_016869491.1:p.Ala416=
NM_004820.5:c.1182C>T MANE Select	NP_004811.1:p.Ala394=
NM_001324112.2:c.1182C>T	NP_001311041.1:p.Ala394=