Canonical Allele Identifier: CA397988526

Gene: HES7

Linked Data

• ClinVar Variation Id: 1371369
• ClinVar RCV Id: RCV001899559
• dbSNP Id: rs563910734
• gnomAD v4: 17-8121914-G-T
• MyVariant Identifiers: chr17:g.8025232G>T (hg19) ; chr17:g.8121914G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8121914G>T , CM000679.2:g.8121914G>T	GRCh38
NC_000017.10:g.8025232G>T , CM000679.1:g.8025232G>T	GRCh37
NC_000017.9:g.7965957G>T	NCBI36
NG_015807.1:g.2003C>A
NG_015816.1:g.7179C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541682.7:c.350C>A MANE Select	ENSP00000446205.2:p.Pro117Gln
ENST00000317814.8:c.335C>A	ENSP00000314774.4:p.Pro112Gln
ENST00000541682.6:c.350C>A	ENSP00000446205.2:p.Pro117Gln
ENST00000577735.1:c.326C>A	ENSP00000462491.1:p.Pro109Gln
NM_001165967.1:c.350C>A	NP_001159439.1:p.Pro117Gln
NM_032580.3:c.335C>A	NP_115969.2:p.Pro112Gln
XM_011524038.1:c.455C>A	XP_011522340.1:p.Pro152Gln
XM_011524039.1:c.446C>A	XP_011522341.1:p.Pro149Gln
XM_011524040.1:c.446C>A	XP_011522342.1:p.Pro149Gln
XM_011524041.1:c.437C>A	XP_011522343.1:p.Pro146Gln
XM_011524042.1:c.308C>A	XP_011522344.1:p.Pro103Gln
XR_934203.1:n.69+2100G>T
XM_017025232.1:c.455C>A	XP_016880721.1:p.Pro152Gln
XM_024451007.1:c.455C>A	XP_024306775.1:p.Pro152Gln
NM_001165967.2:c.350C>A MANE Select	NP_001159439.1:p.Pro117Gln
NM_032580.4:c.335C>A	NP_115969.2:p.Pro112Gln