Canonical Allele Identifier: CA397988539

Gene: HES7

Linked Data

• gnomAD v4: 17-8121917-C-A
• MyVariant Identifiers: chr17:g.8025235C>A (hg19) ; chr17:g.8121917C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8121917C>A , CM000679.2:g.8121917C>A	GRCh38
NC_000017.10:g.8025235C>A , CM000679.1:g.8025235C>A	GRCh37
NC_000017.9:g.7965960C>A	NCBI36
NG_015807.1:g.2000G>T
NG_015816.1:g.7176G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541682.7:c.347G>T MANE Select	ENSP00000446205.2:p.Ser116Ile
ENST00000317814.8:c.332G>T	ENSP00000314774.4:p.Ser111Ile
ENST00000541682.6:c.347G>T	ENSP00000446205.2:p.Ser116Ile
ENST00000577735.1:c.323G>T	ENSP00000462491.1:p.Ser108Ile
NM_001165967.1:c.347G>T	NP_001159439.1:p.Ser116Ile
NM_032580.3:c.332G>T	NP_115969.2:p.Ser111Ile
XM_011524038.1:c.452G>T	XP_011522340.1:p.Ser151Ile
XM_011524039.1:c.443G>T	XP_011522341.1:p.Ser148Ile
XM_011524040.1:c.443G>T	XP_011522342.1:p.Ser148Ile
XM_011524041.1:c.434G>T	XP_011522343.1:p.Ser145Ile
XM_011524042.1:c.305G>T	XP_011522344.1:p.Ser102Ile
XR_934203.1:n.69+2103C>A
XM_017025232.1:c.452G>T	XP_016880721.1:p.Ser151Ile
XM_024451007.1:c.452G>T	XP_024306775.1:p.Ser151Ile
NM_001165967.2:c.347G>T MANE Select	NP_001159439.1:p.Ser116Ile
NM_032580.4:c.332G>T	NP_115969.2:p.Ser111Ile