Canonical Allele Identifier: CA397987283

Gene: HES7

Linked Data

• gnomAD v4: 17-8121663-G-T
• MyVariant Identifiers: chr17:g.8024981G>T (hg19) ; chr17:g.8121663G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8121663G>T , CM000679.2:g.8121663G>T	GRCh38
NC_000017.10:g.8024981G>T , CM000679.1:g.8024981G>T	GRCh37
NC_000017.9:g.7965706G>T	NCBI36
NG_015807.1:g.2254C>A
NG_015816.1:g.7430C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541682.7:c.601C>A MANE Select	ENSP00000446205.2:p.Leu201Met
ENST00000317814.8:c.586C>A	ENSP00000314774.4:p.Leu196Met
ENST00000541682.6:c.601C>A	ENSP00000446205.2:p.Leu201Met
NM_001165967.1:c.601C>A	NP_001159439.1:p.Leu201Met
NM_032580.3:c.586C>A	NP_115969.2:p.Leu196Met
XM_011524038.1:c.706C>A	XP_011522340.1:p.Leu236Met
XM_011524039.1:c.697C>A	XP_011522341.1:p.Leu233Met
XM_011524040.1:c.697C>A	XP_011522342.1:p.Leu233Met
XM_011524041.1:c.688C>A	XP_011522343.1:p.Leu230Met
XM_011524042.1:c.559C>A	XP_011522344.1:p.Leu187Met
XR_934203.1:n.69+1849G>T
XM_017025232.1:c.706C>A	XP_016880721.1:p.Leu236Met
XM_024451007.1:c.706C>A	XP_024306775.1:p.Leu236Met
NM_001165967.2:c.601C>A MANE Select	NP_001159439.1:p.Leu201Met
NM_032580.4:c.586C>A	NP_115969.2:p.Leu196Met