Canonical Allele Identifier: CA397987435

Gene: HES7

Linked Data

• gnomAD v4: 17-8121695-C-T
• MyVariant Identifiers: chr17:g.8025013C>T (hg19) ; chr17:g.8121695C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8121695C>T , CM000679.2:g.8121695C>T	GRCh38
NC_000017.10:g.8025013C>T , CM000679.1:g.8025013C>T	GRCh37
NC_000017.9:g.7965738C>T	NCBI36
NG_015807.1:g.2222G>A
NG_015816.1:g.7398G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541682.7:c.569G>A MANE Select	ENSP00000446205.2:p.Gly190Glu
ENST00000317814.8:c.554G>A	ENSP00000314774.4:p.Gly185Glu
ENST00000541682.6:c.569G>A	ENSP00000446205.2:p.Gly190Glu
NM_001165967.1:c.569G>A	NP_001159439.1:p.Gly190Glu
NM_032580.3:c.554G>A	NP_115969.2:p.Gly185Glu
XM_011524038.1:c.674G>A	XP_011522340.1:p.Gly225Glu
XM_011524039.1:c.665G>A	XP_011522341.1:p.Gly222Glu
XM_011524040.1:c.665G>A	XP_011522342.1:p.Gly222Glu
XM_011524041.1:c.656G>A	XP_011522343.1:p.Gly219Glu
XM_011524042.1:c.527G>A	XP_011522344.1:p.Gly176Glu
XR_934203.1:n.69+1881C>T
XM_017025232.1:c.674G>A	XP_016880721.1:p.Gly225Glu
XM_024451007.1:c.674G>A	XP_024306775.1:p.Gly225Glu
NM_001165967.2:c.569G>A MANE Select	NP_001159439.1:p.Gly190Glu
NM_032580.4:c.554G>A	NP_115969.2:p.Gly185Glu