Canonical Allele Identifier: CA397989081

Gene: HES7

Linked Data

• dbSNP Id: rs1173039818
• gnomAD v2: 17-8025340-C-T
• gnomAD v3: 17-8122022-C-T
• gnomAD v4: 17-8122022-C-T
• MyVariant Identifiers: chr17:g.8025340C>T (hg19) ; chr17:g.8122022C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8122022C>T , CM000679.2:g.8122022C>T	GRCh38
NC_000017.10:g.8025340C>T , CM000679.1:g.8025340C>T	GRCh37
NC_000017.9:g.7966065C>T	NCBI36
NG_015807.1:g.1895G>A
NG_015816.1:g.7071G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541682.7:c.242G>A MANE Select	ENSP00000446205.2:p.Gly81Glu
ENST00000317814.8:c.227G>A	ENSP00000314774.4:p.Gly76Glu
ENST00000541682.6:c.242G>A	ENSP00000446205.2:p.Gly81Glu
ENST00000577735.1:c.218G>A	ENSP00000462491.1:p.Gly73Glu
NM_001165967.1:c.242G>A	NP_001159439.1:p.Gly81Glu
NM_032580.3:c.227G>A	NP_115969.2:p.Gly76Glu
XM_011524038.1:c.347G>A	XP_011522340.1:p.Gly116Glu
XM_011524039.1:c.338G>A	XP_011522341.1:p.Gly113Glu
XM_011524040.1:c.338G>A	XP_011522342.1:p.Gly113Glu
XM_011524041.1:c.329G>A	XP_011522343.1:p.Gly110Glu
XM_011524042.1:c.200G>A	XP_011522344.1:p.Gly67Glu
XR_934203.1:n.69+2208C>T
XM_017025232.1:c.347G>A	XP_016880721.1:p.Gly116Glu
XM_024451007.1:c.347G>A	XP_024306775.1:p.Gly116Glu
NM_001165967.2:c.242G>A MANE Select	NP_001159439.1:p.Gly81Glu
NM_032580.4:c.227G>A	NP_115969.2:p.Gly76Glu