Canonical Allele Identifier: CA371334092

Gene: CYP7B1

Linked Data

• gnomAD v4: 8-64604731-A-T
• MyVariant Identifiers: chr8:g.65517288A>T (hg19) ; chr8:g.64604731A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.64604731A>T , CM000670.2:g.64604731A>T	GRCh38
NC_000008.10:g.65517288A>T , CM000670.1:g.65517288A>T	GRCh37
NC_000008.9:g.65679842A>T	NCBI36
NG_008338.1:g.199061T>A
NG_008338.2:g.199061T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000310193.4:c.1184T>A MANE Select	ENSP00000310721.3:p.Ile395Asn
ENST00000310193.3:c.1184T>A	ENSP00000310721.3:p.Ile395Asn
ENST00000523954.1:n.458T>A
NM_004820.3:c.1184T>A	NP_004811.1:p.Ile395Asn
NM_001324112.1:c.1184T>A	NP_001311041.1:p.Ile395Asn
NM_004820.4:c.1184T>A	NP_004811.1:p.Ile395Asn
XM_017014002.1:c.1250T>A	XP_016869491.1:p.Ile417Asn
NM_004820.5:c.1184T>A MANE Select	NP_004811.1:p.Ile395Asn
NM_001324112.2:c.1184T>A	NP_001311041.1:p.Ile395Asn