Canonical Allele Identifier: CA397988210

Gene: HES7

Linked Data

• gnomAD v4: 17-8121843-C-T
• MyVariant Identifiers: chr17:g.8025161C>T (hg19) ; chr17:g.8121843C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8121843C>T , CM000679.2:g.8121843C>T	GRCh38
NC_000017.10:g.8025161C>T , CM000679.1:g.8025161C>T	GRCh37
NC_000017.9:g.7965886C>T	NCBI36
NG_015807.1:g.2074G>A
NG_015816.1:g.7250G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541682.7:c.421G>A MANE Select	ENSP00000446205.2:p.Val141Ile
ENST00000317814.8:c.406G>A	ENSP00000314774.4:p.Val136Ile
ENST00000541682.6:c.421G>A	ENSP00000446205.2:p.Val141Ile
ENST00000577735.1:c.397G>A	ENSP00000462491.1:p.Val133Ile
NM_001165967.1:c.421G>A	NP_001159439.1:p.Val141Ile
NM_032580.3:c.406G>A	NP_115969.2:p.Val136Ile
XM_011524038.1:c.526G>A	XP_011522340.1:p.Val176Ile
XM_011524039.1:c.517G>A	XP_011522341.1:p.Val173Ile
XM_011524040.1:c.517G>A	XP_011522342.1:p.Val173Ile
XM_011524041.1:c.508G>A	XP_011522343.1:p.Val170Ile
XM_011524042.1:c.379G>A	XP_011522344.1:p.Val127Ile
XR_934203.1:n.69+2029C>T
XM_017025232.1:c.526G>A	XP_016880721.1:p.Val176Ile
XM_024451007.1:c.526G>A	XP_024306775.1:p.Val176Ile
NM_001165967.2:c.421G>A MANE Select	NP_001159439.1:p.Val141Ile
NM_032580.4:c.406G>A	NP_115969.2:p.Val136Ile