Canonical Allele Identifier: CA397988623

Gene: HES7

Linked Data

• dbSNP Id: rs1484921371
• gnomAD v2: 17-8025254-C-T
• gnomAD v3: 17-8121936-C-T
• gnomAD v4: 17-8121936-C-T
• MyVariant Identifiers: chr17:g.8025254C>T (hg19) ; chr17:g.8121936C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8121936C>T , CM000679.2:g.8121936C>T	GRCh38
NC_000017.10:g.8025254C>T , CM000679.1:g.8025254C>T	GRCh37
NC_000017.9:g.7965979C>T	NCBI36
NG_015807.1:g.1981G>A
NG_015816.1:g.7157G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541682.7:c.328G>A MANE Select	ENSP00000446205.2:p.Ala110Thr
ENST00000317814.8:c.313G>A	ENSP00000314774.4:p.Ala105Thr
ENST00000541682.6:c.328G>A	ENSP00000446205.2:p.Ala110Thr
ENST00000577735.1:c.304G>A	ENSP00000462491.1:p.Ala102Thr
NM_001165967.1:c.328G>A	NP_001159439.1:p.Ala110Thr
NM_032580.3:c.313G>A	NP_115969.2:p.Ala105Thr
XM_011524038.1:c.433G>A	XP_011522340.1:p.Ala145Thr
XM_011524039.1:c.424G>A	XP_011522341.1:p.Ala142Thr
XM_011524040.1:c.424G>A	XP_011522342.1:p.Ala142Thr
XM_011524041.1:c.415G>A	XP_011522343.1:p.Ala139Thr
XM_011524042.1:c.286G>A	XP_011522344.1:p.Ala96Thr
XR_934203.1:n.69+2122C>T
XM_017025232.1:c.433G>A	XP_016880721.1:p.Ala145Thr
XM_024451007.1:c.433G>A	XP_024306775.1:p.Ala145Thr
NM_001165967.2:c.328G>A MANE Select	NP_001159439.1:p.Ala110Thr
NM_032580.4:c.313G>A	NP_115969.2:p.Ala105Thr