Canonical Allele Identifier: CA397989065

Gene: HES7

Linked Data

• MyVariant Identifiers: chr17:g.8025337A>T (hg19) ; chr17:g.8122019A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8122019A>T , CM000679.2:g.8122019A>T	GRCh38
NC_000017.10:g.8025337A>T , CM000679.1:g.8025337A>T	GRCh37
NC_000017.9:g.7966062A>T	NCBI36
NG_015807.1:g.1898T>A
NG_015816.1:g.7074T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541682.7:c.245T>A MANE Select	ENSP00000446205.2:p.Val82Asp
ENST00000317814.8:c.230T>A	ENSP00000314774.4:p.Val77Asp
ENST00000541682.6:c.245T>A	ENSP00000446205.2:p.Val82Asp
ENST00000577735.1:c.221T>A	ENSP00000462491.1:p.Val74Asp
NM_001165967.1:c.245T>A	NP_001159439.1:p.Val82Asp
NM_032580.3:c.230T>A	NP_115969.2:p.Val77Asp
XM_011524038.1:c.350T>A	XP_011522340.1:p.Val117Asp
XM_011524039.1:c.341T>A	XP_011522341.1:p.Val114Asp
XM_011524040.1:c.341T>A	XP_011522342.1:p.Val114Asp
XM_011524041.1:c.332T>A	XP_011522343.1:p.Val111Asp
XM_011524042.1:c.203T>A	XP_011522344.1:p.Val68Asp
XR_934203.1:n.69+2205A>T
XM_017025232.1:c.350T>A	XP_016880721.1:p.Val117Asp
XM_024451007.1:c.350T>A	XP_024306775.1:p.Val117Asp
NM_001165967.2:c.245T>A MANE Select	NP_001159439.1:p.Val82Asp
NM_032580.4:c.230T>A	NP_115969.2:p.Val77Asp