Canonical Allele Identifier: CA4764276

Gene: CYP7B1

Linked Data

• ClinVar Variation Id: 2039298
• ClinVar RCV Id: RCV002899782
• dbSNP Id: rs768437140
• ExAC: 8:65537036 G / A
• gnomAD v2: 8-65537036-G-A
• gnomAD v4: 8-64624479-G-A
• MyVariant Identifiers: chr8:g.65537036G>A (hg19) ; chr8:g.64624479G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.64624479G>A , CM000670.2:g.64624479G>A	GRCh38
NC_000008.10:g.65537036G>A , CM000670.1:g.65537036G>A	GRCh37
NC_000008.9:g.65699590G>A	NCBI36
NG_008338.1:g.179313C>T
NG_008338.2:g.179313C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310193.4:c.183C>T MANE Select	ENSP00000310721.3:p.Asn61=
ENST00000310193.3:c.183C>T	ENSP00000310721.3:p.Asn61=
NM_004820.3:c.183C>T	NP_004811.1:p.Asn61=
NM_001324112.1:c.183C>T	NP_001311041.1:p.Asn61=
NM_004820.4:c.183C>T	NP_004811.1:p.Asn61=
XM_017014002.1:c.249C>T	XP_016869491.1:p.Asn83=
NM_004820.5:c.183C>T MANE Select	NP_004811.1:p.Asn61=
NM_001324112.2:c.183C>T	NP_001311041.1:p.Asn61=