Canonical Allele Identifier: CA371334112

Gene: CYP7B1

Linked Data

• MyVariant Identifiers: chr8:g.65517298A>C (hg19) ; chr8:g.64604741A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.64604741A>C , CM000670.2:g.64604741A>C	GRCh38
NC_000008.10:g.65517298A>C , CM000670.1:g.65517298A>C	GRCh37
NC_000008.9:g.65679852A>C	NCBI36
NG_008338.1:g.199051T>G
NG_008338.2:g.199051T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000310193.4:c.1174T>G MANE Select	ENSP00000310721.3:p.Leu392Val
ENST00000310193.3:c.1174T>G	ENSP00000310721.3:p.Leu392Val
ENST00000523954.1:n.448T>G
NM_004820.3:c.1174T>G	NP_004811.1:p.Leu392Val
NM_001324112.1:c.1174T>G	NP_001311041.1:p.Leu392Val
NM_004820.4:c.1174T>G	NP_004811.1:p.Leu392Val
XM_017014002.1:c.1240T>G	XP_016869491.1:p.Leu414Val
NM_004820.5:c.1174T>G MANE Select	NP_004811.1:p.Leu392Val
NM_001324112.2:c.1174T>G	NP_001311041.1:p.Leu392Val