Canonical Allele Identifier: CA397988399

Gene: HES7

Linked Data

• dbSNP Id: rs1167419514
• gnomAD v2: 17-8025200-G-A
• gnomAD v4: 17-8121882-G-A
• MyVariant Identifiers: chr17:g.8025200G>A (hg19) ; chr17:g.8121882G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8121882G>A , CM000679.2:g.8121882G>A	GRCh38
NC_000017.10:g.8025200G>A , CM000679.1:g.8025200G>A	GRCh37
NC_000017.9:g.7965925G>A	NCBI36
NG_015807.1:g.2035C>T
NG_015816.1:g.7211C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541682.7:c.382C>T MANE Select	ENSP00000446205.2:p.His128Tyr
ENST00000317814.8:c.367C>T	ENSP00000314774.4:p.His123Tyr
ENST00000541682.6:c.382C>T	ENSP00000446205.2:p.His128Tyr
ENST00000577735.1:c.358C>T	ENSP00000462491.1:p.His120Tyr
NM_001165967.1:c.382C>T	NP_001159439.1:p.His128Tyr
NM_032580.3:c.367C>T	NP_115969.2:p.His123Tyr
XM_011524038.1:c.487C>T	XP_011522340.1:p.His163Tyr
XM_011524039.1:c.478C>T	XP_011522341.1:p.His160Tyr
XM_011524040.1:c.478C>T	XP_011522342.1:p.His160Tyr
XM_011524041.1:c.469C>T	XP_011522343.1:p.His157Tyr
XM_011524042.1:c.340C>T	XP_011522344.1:p.His114Tyr
XR_934203.1:n.69+2068G>A
XM_017025232.1:c.487C>T	XP_016880721.1:p.His163Tyr
XM_024451007.1:c.487C>T	XP_024306775.1:p.His163Tyr
NM_001165967.2:c.382C>T MANE Select	NP_001159439.1:p.His128Tyr
NM_032580.4:c.367C>T	NP_115969.2:p.His123Tyr