Canonical Allele Identifier: CA497955173

Gene: HES7

Linked Data

• gnomAD v4: 17-8121778-C-T
• MyVariant Identifiers: chr17:g.8025096C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8121778C>T , CM000679.2:g.8121778C>T	GRCh38
NC_000017.10:g.8025096C>T , CM000679.1:g.8025096C>T	GRCh37
NC_000017.9:g.7965821C>T	NCBI36
NG_015807.1:g.2139G>A
NG_015816.1:g.7315G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541682.7:c.486G>A MANE Select	ENSP00000446205.2:p.Ala162=
ENST00000317814.8:c.471G>A	ENSP00000314774.4:p.Ala157=
ENST00000541682.6:c.486G>A	ENSP00000446205.2:p.Ala162=
NM_001165967.1:c.486G>A	NP_001159439.1:p.Ala162=
NM_032580.3:c.471G>A	NP_115969.2:p.Ala157=
XM_011524038.1:c.591G>A	XP_011522340.1:p.Ala197=
XM_011524039.1:c.582G>A	XP_011522341.1:p.Ala194=
XM_011524040.1:c.582G>A	XP_011522342.1:p.Ala194=
XM_011524041.1:c.573G>A	XP_011522343.1:p.Ala191=
XM_011524042.1:c.444G>A	XP_011522344.1:p.Ala148=
XR_934203.1:n.69+1964C>T
XM_017025232.1:c.591G>A	XP_016880721.1:p.Ala197=
XM_024451007.1:c.591G>A	XP_024306775.1:p.Ala197=
NM_001165967.2:c.486G>A MANE Select	NP_001159439.1:p.Ala162=
NM_032580.4:c.471G>A	NP_115969.2:p.Ala157=