Canonical Allele Identifier: CA397988764

Gene: HES7

Linked Data

• dbSNP Id: rs1373544659
• gnomAD v2: 17-8025284-C-A
• gnomAD v4: 17-8121966-C-A
• MyVariant Identifiers: chr17:g.8025284C>A (hg19) ; chr17:g.8121966C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8121966C>A , CM000679.2:g.8121966C>A	GRCh38
NC_000017.10:g.8025284C>A , CM000679.1:g.8025284C>A	GRCh37
NC_000017.9:g.7966009C>A	NCBI36
NG_015807.1:g.1951G>T
NG_015816.1:g.7127G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541682.7:c.298G>T MANE Select	ENSP00000446205.2:p.Gly100Cys
ENST00000317814.8:c.283G>T	ENSP00000314774.4:p.Gly95Cys
ENST00000541682.6:c.298G>T	ENSP00000446205.2:p.Gly100Cys
ENST00000577735.1:c.274G>T	ENSP00000462491.1:p.Gly92Cys
NM_001165967.1:c.298G>T	NP_001159439.1:p.Gly100Cys
NM_032580.3:c.283G>T	NP_115969.2:p.Gly95Cys
XM_011524038.1:c.403G>T	XP_011522340.1:p.Gly135Cys
XM_011524039.1:c.394G>T	XP_011522341.1:p.Gly132Cys
XM_011524040.1:c.394G>T	XP_011522342.1:p.Gly132Cys
XM_011524041.1:c.385G>T	XP_011522343.1:p.Gly129Cys
XM_011524042.1:c.256G>T	XP_011522344.1:p.Gly86Cys
XR_934203.1:n.69+2152C>A
XM_017025232.1:c.403G>T	XP_016880721.1:p.Gly135Cys
XM_024451007.1:c.403G>T	XP_024306775.1:p.Gly135Cys
NM_001165967.2:c.298G>T MANE Select	NP_001159439.1:p.Gly100Cys
NM_032580.4:c.283G>T	NP_115969.2:p.Gly95Cys