Canonical Allele Identifier: CA624868629

Gene: HES7

Linked Data

• dbSNP Id: rs765663074
• gnomAD v2: 17-8025383-G-A
• gnomAD v3: 17-8122065-G-A
• gnomAD v4: 17-8122065-G-A
• MyVariant Identifiers: chr17:g.8025383G>A (hg19) ; chr17:g.8122065G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8122065G>A , CM000679.2:g.8122065G>A	GRCh38
NC_000017.10:g.8025383G>A , CM000679.1:g.8025383G>A	GRCh37
NC_000017.9:g.7966108G>A	NCBI36
NG_015807.1:g.1852C>T
NG_015816.1:g.7028C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541682.7:c.227-28C>T MANE Select	ENSP00000446205.2:n.227-28C>T
ENST00000317814.8:c.227-43C>T	ENSP00000314774.4:n.227-43C>T
ENST00000541682.6:c.227-28C>T	ENSP00000446205.2:n.227-28C>T
ENST00000577735.1:c.203-28C>T	ENSP00000462491.1:n.203-28C>T
NM_001165967.1:c.227-28C>T	NP_001159439.1:n.227-28C>T
NM_032580.3:c.227-43C>T	NP_115969.2:n.227-43C>T
XM_011524038.1:c.332-28C>T	XP_011522340.1:n.332-28C>T
XM_011524039.1:c.323-28C>T	XP_011522341.1:n.323-28C>T
XM_011524040.1:c.323-28C>T	XP_011522342.1:n.323-28C>T
XM_011524041.1:c.314-28C>T	XP_011522343.1:n.314-28C>T
XM_011524042.1:c.185-28C>T	XP_011522344.1:n.185-28C>T
XR_934203.1:n.69+2251G>A
XM_017025232.1:c.332-28C>T	XP_016880721.1:n.332-28C>T
XM_024451007.1:c.332-28C>T	XP_024306775.1:n.332-28C>T
NM_001165967.2:c.227-28C>T MANE Select	NP_001159439.1:n.227-28C>T
NM_032580.4:c.227-43C>T	NP_115969.2:n.227-43C>T