Canonical Allele Identifier: CA397989025

Gene: HES7

Linked Data

• gnomAD v4: 17-8122013-C-A
• MyVariant Identifiers: chr17:g.8025331C>A (hg19) ; chr17:g.8122013C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8122013C>A , CM000679.2:g.8122013C>A	GRCh38
NC_000017.10:g.8025331C>A , CM000679.1:g.8025331C>A	GRCh37
NC_000017.9:g.7966056C>A	NCBI36
NG_015807.1:g.1904G>T
NG_015816.1:g.7080G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541682.7:c.251G>T MANE Select	ENSP00000446205.2:p.Arg84Leu
ENST00000317814.8:c.236G>T	ENSP00000314774.4:p.Arg79Leu
ENST00000541682.6:c.251G>T	ENSP00000446205.2:p.Arg84Leu
ENST00000577735.1:c.227G>T	ENSP00000462491.1:p.Arg76Leu
NM_001165967.1:c.251G>T	NP_001159439.1:p.Arg84Leu
NM_032580.3:c.236G>T	NP_115969.2:p.Arg79Leu
XM_011524038.1:c.356G>T	XP_011522340.1:p.Arg119Leu
XM_011524039.1:c.347G>T	XP_011522341.1:p.Arg116Leu
XM_011524040.1:c.347G>T	XP_011522342.1:p.Arg116Leu
XM_011524041.1:c.338G>T	XP_011522343.1:p.Arg113Leu
XM_011524042.1:c.209G>T	XP_011522344.1:p.Arg70Leu
XR_934203.1:n.69+2199C>A
XM_017025232.1:c.356G>T	XP_016880721.1:p.Arg119Leu
XM_024451007.1:c.356G>T	XP_024306775.1:p.Arg119Leu
NM_001165967.2:c.251G>T MANE Select	NP_001159439.1:p.Arg84Leu
NM_032580.4:c.236G>T	NP_115969.2:p.Arg79Leu