Canonical Allele Identifier: CA8368664

Gene: HES7

Linked Data

• dbSNP Id: rs780606563
• ExAC: 17:8025273 C / A
• gnomAD v2: 17-8025273-C-A
• gnomAD v4: 17-8121955-C-A
• MyVariant Identifiers: chr17:g.8025273C>A (hg19) ; chr17:g.8121955C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8121955C>A , CM000679.2:g.8121955C>A	GRCh38
NC_000017.10:g.8025273C>A , CM000679.1:g.8025273C>A	GRCh37
NC_000017.9:g.7965998C>A	NCBI36
NG_015807.1:g.1962G>T
NG_015816.1:g.7138G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541682.7:c.309G>T MANE Select	ENSP00000446205.2:p.Glu103Asp
ENST00000317814.8:c.294G>T	ENSP00000314774.4:p.Glu98Asp
ENST00000541682.6:c.309G>T	ENSP00000446205.2:p.Glu103Asp
ENST00000577735.1:c.285G>T	ENSP00000462491.1:p.Glu95Asp
NM_001165967.1:c.309G>T	NP_001159439.1:p.Glu103Asp
NM_032580.3:c.294G>T	NP_115969.2:p.Glu98Asp
XM_011524038.1:c.414G>T	XP_011522340.1:p.Glu138Asp
XM_011524039.1:c.405G>T	XP_011522341.1:p.Glu135Asp
XM_011524040.1:c.405G>T	XP_011522342.1:p.Glu135Asp
XM_011524041.1:c.396G>T	XP_011522343.1:p.Glu132Asp
XM_011524042.1:c.267G>T	XP_011522344.1:p.Glu89Asp
XR_934203.1:n.69+2141C>A
XM_017025232.1:c.414G>T	XP_016880721.1:p.Glu138Asp
XM_024451007.1:c.414G>T	XP_024306775.1:p.Glu138Asp
NM_001165967.2:c.309G>T MANE Select	NP_001159439.1:p.Glu103Asp
NM_032580.4:c.294G>T	NP_115969.2:p.Glu98Asp