Canonical Allele Identifier: CA397988465

Gene: HES7

Linked Data

• MyVariant Identifiers: chr17:g.8025217T>A (hg19) ; chr17:g.8121899T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8121899T>A , CM000679.2:g.8121899T>A	GRCh38
NC_000017.10:g.8025217T>A , CM000679.1:g.8025217T>A	GRCh37
NC_000017.9:g.7965942T>A	NCBI36
NG_015807.1:g.2018A>T
NG_015816.1:g.7194A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541682.7:c.365A>T MANE Select	ENSP00000446205.2:p.Gln122Leu
ENST00000317814.8:c.350A>T	ENSP00000314774.4:p.Gln117Leu
ENST00000541682.6:c.365A>T	ENSP00000446205.2:p.Gln122Leu
ENST00000577735.1:c.341A>T	ENSP00000462491.1:p.Gln114Leu
NM_001165967.1:c.365A>T	NP_001159439.1:p.Gln122Leu
NM_032580.3:c.350A>T	NP_115969.2:p.Gln117Leu
XM_011524038.1:c.470A>T	XP_011522340.1:p.Gln157Leu
XM_011524039.1:c.461A>T	XP_011522341.1:p.Gln154Leu
XM_011524040.1:c.461A>T	XP_011522342.1:p.Gln154Leu
XM_011524041.1:c.452A>T	XP_011522343.1:p.Gln151Leu
XM_011524042.1:c.323A>T	XP_011522344.1:p.Gln108Leu
XR_934203.1:n.69+2085T>A
XM_017025232.1:c.470A>T	XP_016880721.1:p.Gln157Leu
XM_024451007.1:c.470A>T	XP_024306775.1:p.Gln157Leu
NM_001165967.2:c.365A>T MANE Select	NP_001159439.1:p.Gln122Leu
NM_032580.4:c.350A>T	NP_115969.2:p.Gln117Leu