Canonical Allele Identifier: CA371336044

Gene: CYP7B1

Linked Data

• MyVariant Identifiers: chr8:g.65528745A>T (hg19) ; chr8:g.64616188A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.64616188A>T , CM000670.2:g.64616188A>T	GRCh38
NC_000008.10:g.65528745A>T , CM000670.1:g.65528745A>T	GRCh37
NC_000008.9:g.65691299A>T	NCBI36
NG_008338.1:g.187604T>A
NG_008338.2:g.187604T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310193.4:c.353T>A MANE Select	ENSP00000310721.3:p.Leu118Ter
ENST00000310193.3:c.353T>A	ENSP00000310721.3:p.Leu118Ter
NM_004820.3:c.353T>A	NP_004811.1:p.Leu118Ter
NM_001324112.1:c.353T>A	NP_001311041.1:p.Leu118Ter
NM_004820.4:c.353T>A	NP_004811.1:p.Leu118Ter
XM_017014002.1:c.419T>A	XP_016869491.1:p.Leu140Ter
NM_004820.5:c.353T>A MANE Select	NP_004811.1:p.Leu118Ter
NM_001324112.2:c.353T>A	NP_001311041.1:p.Leu118Ter