Canonical Allele Identifier: CA397988987

Gene: HES7

Linked Data

• gnomAD v4: 17-8122005-C-A
• MyVariant Identifiers: chr17:g.8025323C>A (hg19) ; chr17:g.8122005C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8122005C>A , CM000679.2:g.8122005C>A	GRCh38
NC_000017.10:g.8025323C>A , CM000679.1:g.8025323C>A	GRCh37
NC_000017.9:g.7966048C>A	NCBI36
NG_015807.1:g.1912G>T
NG_015816.1:g.7088G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541682.7:c.259G>T MANE Select	ENSP00000446205.2:p.Val87Phe
ENST00000317814.8:c.244G>T	ENSP00000314774.4:p.Val82Phe
ENST00000541682.6:c.259G>T	ENSP00000446205.2:p.Val87Phe
ENST00000577735.1:c.235G>T	ENSP00000462491.1:p.Val79Phe
NM_001165967.1:c.259G>T	NP_001159439.1:p.Val87Phe
NM_032580.3:c.244G>T	NP_115969.2:p.Val82Phe
XM_011524038.1:c.364G>T	XP_011522340.1:p.Val122Phe
XM_011524039.1:c.355G>T	XP_011522341.1:p.Val119Phe
XM_011524040.1:c.355G>T	XP_011522342.1:p.Val119Phe
XM_011524041.1:c.346G>T	XP_011522343.1:p.Val116Phe
XM_011524042.1:c.217G>T	XP_011522344.1:p.Val73Phe
XR_934203.1:n.69+2191C>A
XM_017025232.1:c.364G>T	XP_016880721.1:p.Val122Phe
XM_024451007.1:c.364G>T	XP_024306775.1:p.Val122Phe
NM_001165967.2:c.259G>T MANE Select	NP_001159439.1:p.Val87Phe
NM_032580.4:c.244G>T	NP_115969.2:p.Val82Phe