Canonical Allele Identifier: CA397988964

Gene: HES7

Linked Data

• gnomAD v4: 17-8122001-T-C
• MyVariant Identifiers: chr17:g.8025319T>C (hg19) ; chr17:g.8122001T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8122001T>C , CM000679.2:g.8122001T>C	GRCh38
NC_000017.10:g.8025319T>C , CM000679.1:g.8025319T>C	GRCh37
NC_000017.9:g.7966044T>C	NCBI36
NG_015807.1:g.1916A>G
NG_015816.1:g.7092A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541682.7:c.263A>G MANE Select	ENSP00000446205.2:p.Gln88Arg
ENST00000317814.8:c.248A>G	ENSP00000314774.4:p.Gln83Arg
ENST00000541682.6:c.263A>G	ENSP00000446205.2:p.Gln88Arg
ENST00000577735.1:c.239A>G	ENSP00000462491.1:p.Gln80Arg
NM_001165967.1:c.263A>G	NP_001159439.1:p.Gln88Arg
NM_032580.3:c.248A>G	NP_115969.2:p.Gln83Arg
XM_011524038.1:c.368A>G	XP_011522340.1:p.Gln123Arg
XM_011524039.1:c.359A>G	XP_011522341.1:p.Gln120Arg
XM_011524040.1:c.359A>G	XP_011522342.1:p.Gln120Arg
XM_011524041.1:c.350A>G	XP_011522343.1:p.Gln117Arg
XM_011524042.1:c.221A>G	XP_011522344.1:p.Gln74Arg
XR_934203.1:n.69+2187T>C
XM_017025232.1:c.368A>G	XP_016880721.1:p.Gln123Arg
XM_024451007.1:c.368A>G	XP_024306775.1:p.Gln123Arg
NM_001165967.2:c.263A>G MANE Select	NP_001159439.1:p.Gln88Arg
NM_032580.4:c.248A>G	NP_115969.2:p.Gln83Arg