Canonical Allele Identifier: CA854284056

Gene: CYP7B1

Linked Data

• dbSNP Id: rs1442233086
• MyVariant Identifiers: chr8:g.65640088A>G (hg19) ; chr8:g.64727531A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.64727531A>G , CM000670.2:g.64727531A>G	GRCh38
NC_000008.10:g.65640088A>G , CM000670.1:g.65640088A>G	GRCh37
NC_000008.9:g.65802642A>G	NCBI36
NG_008338.1:g.76261T>C
NG_008338.2:g.76261T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310193.4:c.122+70935T>C MANE Select	ENSP00000310721.3:n.122+70935T>C
ENST00000310193.3:c.122+70935T>C	ENSP00000310721.3:n.122+70935T>C
NM_004820.3:c.122+70935T>C	NP_004811.1:n.122+70935T>C
NM_001324112.1:c.122+70935T>C	NP_001311041.1:n.122+70935T>C
NM_004820.4:c.122+70935T>C	NP_004811.1:n.122+70935T>C
NM_004820.5:c.122+70935T>C MANE Select	NP_004811.1:n.122+70935T>C
NM_001324112.2:c.122+70935T>C	NP_001311041.1:n.122+70935T>C