Canonical Allele Identifier: CA287537316

Gene: HES7

Linked Data

• ClinVar Variation Id: 1371504
• ClinVar RCV Id: RCV001864567
• dbSNP Id: rs937286297
• gnomAD v3: 17-8121938-G-T
• gnomAD v4: 17-8121938-G-T
• MyVariant Identifiers: chr17:g.8025256G>T (hg19) ; chr17:g.8121938G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8121938G>T , CM000679.2:g.8121938G>T	GRCh38
NC_000017.10:g.8025256G>T , CM000679.1:g.8025256G>T	GRCh37
NC_000017.9:g.7965981G>T	NCBI36
NG_015807.1:g.1979C>A
NG_015816.1:g.7155C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541682.7:c.326C>A MANE Select	ENSP00000446205.2:p.Ala109Glu
ENST00000317814.8:c.311C>A	ENSP00000314774.4:p.Ala104Glu
ENST00000541682.6:c.326C>A	ENSP00000446205.2:p.Ala109Glu
ENST00000577735.1:c.302C>A	ENSP00000462491.1:p.Ala101Glu
NM_001165967.1:c.326C>A	NP_001159439.1:p.Ala109Glu
NM_032580.3:c.311C>A	NP_115969.2:p.Ala104Glu
XM_011524038.1:c.431C>A	XP_011522340.1:p.Ala144Glu
XM_011524039.1:c.422C>A	XP_011522341.1:p.Ala141Glu
XM_011524040.1:c.422C>A	XP_011522342.1:p.Ala141Glu
XM_011524041.1:c.413C>A	XP_011522343.1:p.Ala138Glu
XM_011524042.1:c.284C>A	XP_011522344.1:p.Ala95Glu
XR_934203.1:n.69+2124G>T
XM_017025232.1:c.431C>A	XP_016880721.1:p.Ala144Glu
XM_024451007.1:c.431C>A	XP_024306775.1:p.Ala144Glu
NM_001165967.2:c.326C>A MANE Select	NP_001159439.1:p.Ala109Glu
NM_032580.4:c.311C>A	NP_115969.2:p.Ala104Glu