Canonical Allele Identifier: CA371335965

Gene: CYP7B1

Linked Data

• dbSNP Id: rs1266561210
• gnomAD v2: 8-65528733-G-A
• gnomAD v4: 8-64616176-G-A
• MyVariant Identifiers: chr8:g.65528733G>A (hg19) ; chr8:g.64616176G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.64616176G>A , CM000670.2:g.64616176G>A	GRCh38
NC_000008.10:g.65528733G>A , CM000670.1:g.65528733G>A	GRCh37
NC_000008.9:g.65691287G>A	NCBI36
NG_008338.1:g.187616C>T
NG_008338.2:g.187616C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310193.4:c.365C>T MANE Select	ENSP00000310721.3:p.Ala122Val
ENST00000310193.3:c.365C>T	ENSP00000310721.3:p.Ala122Val
NM_004820.3:c.365C>T	NP_004811.1:p.Ala122Val
NM_001324112.1:c.365C>T	NP_001311041.1:p.Ala122Val
NM_004820.4:c.365C>T	NP_004811.1:p.Ala122Val
XM_017014002.1:c.431C>T	XP_016869491.1:p.Ala144Val
NM_004820.5:c.365C>T MANE Select	NP_004811.1:p.Ala122Val
NM_001324112.2:c.365C>T	NP_001311041.1:p.Ala122Val