Canonical Allele Identifier: CA775624138

Gene: HES7

Linked Data

• dbSNP Id: rs1372483607
• gnomAD v3: 17-8122044-C-T
• gnomAD v4: 17-8122044-C-T
• MyVariant Identifiers: chr17:g.8025362C>T (hg19) ; chr17:g.8122044C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8122044C>T , CM000679.2:g.8122044C>T	GRCh38
NC_000017.10:g.8025362C>T , CM000679.1:g.8025362C>T	GRCh37
NC_000017.9:g.7966087C>T	NCBI36
NG_015807.1:g.1873G>A
NG_015816.1:g.7049G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541682.7:c.227-7G>A MANE Select	ENSP00000446205.2:n.227-7G>A
ENST00000317814.8:c.227-22G>A	ENSP00000314774.4:n.227-22G>A
ENST00000541682.6:c.227-7G>A	ENSP00000446205.2:n.227-7G>A
ENST00000577735.1:c.203-7G>A	ENSP00000462491.1:n.203-7G>A
NM_001165967.1:c.227-7G>A	NP_001159439.1:n.227-7G>A
NM_032580.3:c.227-22G>A	NP_115969.2:n.227-22G>A
XM_011524038.1:c.332-7G>A	XP_011522340.1:n.332-7G>A
XM_011524039.1:c.323-7G>A	XP_011522341.1:n.323-7G>A
XM_011524040.1:c.323-7G>A	XP_011522342.1:n.323-7G>A
XM_011524041.1:c.314-7G>A	XP_011522343.1:n.314-7G>A
XM_011524042.1:c.185-7G>A	XP_011522344.1:n.185-7G>A
XR_934203.1:n.69+2230C>T
XM_017025232.1:c.332-7G>A	XP_016880721.1:n.332-7G>A
XM_024451007.1:c.332-7G>A	XP_024306775.1:n.332-7G>A
NM_001165967.2:c.227-7G>A MANE Select	NP_001159439.1:n.227-7G>A
NM_032580.4:c.227-22G>A	NP_115969.2:n.227-22G>A