Canonical Allele Identifier: CA287537361

Gene: HES7

Linked Data

• dbSNP Id: rs375153301
• gnomAD v4: 17-8122013-C-T
• MyVariant Identifiers: chr17:g.8025331C>T (hg19) ; chr17:g.8122013C>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541682.7:c.251G>A MANE Select	ENSP00000446205.2:p.Arg84Gln
ENST00000317814.8:c.236G>A	ENSP00000314774.4:p.Arg79Gln
ENST00000541682.6:c.251G>A	ENSP00000446205.2:p.Arg84Gln
ENST00000577735.1:c.227G>A	ENSP00000462491.1:p.Arg76Gln
NM_001165967.1:c.251G>A	NP_001159439.1:p.Arg84Gln
NM_032580.3:c.236G>A	NP_115969.2:p.Arg79Gln
XM_011524038.1:c.356G>A	XP_011522340.1:p.Arg119Gln
XM_011524039.1:c.347G>A	XP_011522341.1:p.Arg116Gln
XM_011524040.1:c.347G>A	XP_011522342.1:p.Arg116Gln
XM_011524041.1:c.338G>A	XP_011522343.1:p.Arg113Gln
XM_011524042.1:c.209G>A	XP_011522344.1:p.Arg70Gln
XR_934203.1:n.69+2199C>T
XM_017025232.1:c.356G>A	XP_016880721.1:p.Arg119Gln
XM_024451007.1:c.356G>A	XP_024306775.1:p.Arg119Gln
NM_001165967.2:c.251G>A MANE Select	NP_001159439.1:p.Arg84Gln
NM_032580.4:c.236G>A	NP_115969.2:p.Arg79Gln