Canonical Allele Identifier: CA371334318

Gene: CYP7B1

Linked Data

• dbSNP Id: rs1805255166
• MyVariant Identifiers: chr8:g.65517396G>A (hg19) ; chr8:g.64604839G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.64604839G>A , CM000670.2:g.64604839G>A	GRCh38
NC_000008.10:g.65517396G>A , CM000670.1:g.65517396G>A	GRCh37
NC_000008.9:g.65679950G>A	NCBI36
NG_008338.1:g.198953C>T
NG_008338.2:g.198953C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000310193.4:c.1076C>T MANE Select	ENSP00000310721.3:p.Ala359Val
ENST00000310193.3:c.1076C>T	ENSP00000310721.3:p.Ala359Val
ENST00000523954.1:n.350C>T
NM_004820.3:c.1076C>T	NP_004811.1:p.Ala359Val
NM_001324112.1:c.1076C>T	NP_001311041.1:p.Ala359Val
NM_004820.4:c.1076C>T	NP_004811.1:p.Ala359Val
XM_017014002.1:c.1142C>T	XP_016869491.1:p.Ala381Val
NM_004820.5:c.1076C>T MANE Select	NP_004811.1:p.Ala359Val
NM_001324112.2:c.1076C>T	NP_001311041.1:p.Ala359Val