Canonical Allele Identifier: CA397989069

Gene: HES7

Linked Data

• gnomAD v4: 17-8122020-C-T
• MyVariant Identifiers: chr17:g.8025338C>T (hg19) ; chr17:g.8122020C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8122020C>T , CM000679.2:g.8122020C>T	GRCh38
NC_000017.10:g.8025338C>T , CM000679.1:g.8025338C>T	GRCh37
NC_000017.9:g.7966063C>T	NCBI36
NG_015807.1:g.1897G>A
NG_015816.1:g.7073G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541682.7:c.244G>A MANE Select	ENSP00000446205.2:p.Val82Ile
ENST00000317814.8:c.229G>A	ENSP00000314774.4:p.Val77Ile
ENST00000541682.6:c.244G>A	ENSP00000446205.2:p.Val82Ile
ENST00000577735.1:c.220G>A	ENSP00000462491.1:p.Val74Ile
NM_001165967.1:c.244G>A	NP_001159439.1:p.Val82Ile
NM_032580.3:c.229G>A	NP_115969.2:p.Val77Ile
XM_011524038.1:c.349G>A	XP_011522340.1:p.Val117Ile
XM_011524039.1:c.340G>A	XP_011522341.1:p.Val114Ile
XM_011524040.1:c.340G>A	XP_011522342.1:p.Val114Ile
XM_011524041.1:c.331G>A	XP_011522343.1:p.Val111Ile
XM_011524042.1:c.202G>A	XP_011522344.1:p.Val68Ile
XR_934203.1:n.69+2206C>T
XM_017025232.1:c.349G>A	XP_016880721.1:p.Val117Ile
XM_024451007.1:c.349G>A	XP_024306775.1:p.Val117Ile
NM_001165967.2:c.244G>A MANE Select	NP_001159439.1:p.Val82Ile
NM_032580.4:c.229G>A	NP_115969.2:p.Val77Ile