Canonical Allele Identifier: CA2573143287

Gene: CYP7B1

Linked Data

• ClinVar Variation Id: 1476437
• ClinVar RCV Id: RCV001995490
• dbSNP Id: rs2129630435

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.64624542A>G , CM000670.2:g.64624542A>G	GRCh38
NC_000008.10:g.65537099A>G , CM000670.1:g.65537099A>G	GRCh37
NC_000008.9:g.65699653A>G	NCBI36
NG_008338.1:g.179250T>C
NG_008338.2:g.179250T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310193.4:c.123-3T>C MANE Select	ENSP00000310721.3:n.123-3T>C
ENST00000310193.3:c.123-3T>C	ENSP00000310721.3:n.123-3T>C
NM_004820.3:c.123-3T>C	NP_004811.1:n.123-3T>C
NM_001324112.1:c.123-3T>C	NP_001311041.1:n.123-3T>C
NM_004820.4:c.123-3T>C	NP_004811.1:n.123-3T>C
XM_017014002.1:c.189-3T>C	XP_016869491.1:n.189-3T>C
NM_004820.5:c.123-3T>C MANE Select	NP_004811.1:n.123-3T>C
NM_001324112.2:c.123-3T>C	NP_001311041.1:n.123-3T>C