Canonical Allele Identifier: CA397989179

Gene: HES7

Linked Data

• gnomAD v4: 17-8122037-G-T
• MyVariant Identifiers: chr17:g.8025355G>T (hg19) ; chr17:g.8122037G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8122037G>T , CM000679.2:g.8122037G>T	GRCh38
NC_000017.10:g.8025355G>T , CM000679.1:g.8025355G>T	GRCh37
NC_000017.9:g.7966080G>T	NCBI36
NG_015807.1:g.1880C>A
NG_015816.1:g.7056C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541682.7:c.227C>A MANE Select	ENSP00000446205.2:p.Ala76Asp
ENST00000317814.8:c.227-15C>A	ENSP00000314774.4:n.227-15C>A
ENST00000541682.6:c.227C>A	ENSP00000446205.2:p.Ala76Asp
ENST00000577735.1:c.203C>A	ENSP00000462491.1:p.Ala68Asp
NM_001165967.1:c.227C>A	NP_001159439.1:p.Ala76Asp
NM_032580.3:c.227-15C>A	NP_115969.2:n.227-15C>A
XM_011524038.1:c.332C>A	XP_011522340.1:p.Ala111Asp
XM_011524039.1:c.323C>A	XP_011522341.1:p.Ala108Asp
XM_011524040.1:c.323C>A	XP_011522342.1:p.Ala108Asp
XM_011524041.1:c.314C>A	XP_011522343.1:p.Ala105Asp
XM_011524042.1:c.185C>A	XP_011522344.1:p.Ala62Asp
XR_934203.1:n.69+2223G>T
XM_017025232.1:c.332C>A	XP_016880721.1:p.Ala111Asp
XM_024451007.1:c.332C>A	XP_024306775.1:p.Ala111Asp
NM_001165967.2:c.227C>A MANE Select	NP_001159439.1:p.Ala76Asp
NM_032580.4:c.227-15C>A	NP_115969.2:n.227-15C>A