Canonical Allele Identifier: CA397988407

Gene: HES7

Linked Data

• MyVariant Identifiers: chr17:g.8025202A>T (hg19) ; chr17:g.8121884A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8121884A>T , CM000679.2:g.8121884A>T	GRCh38
NC_000017.10:g.8025202A>T , CM000679.1:g.8025202A>T	GRCh37
NC_000017.9:g.7965927A>T	NCBI36
NG_015807.1:g.2033T>A
NG_015816.1:g.7209T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541682.7:c.380T>A MANE Select	ENSP00000446205.2:p.Leu127Gln
ENST00000317814.8:c.365T>A	ENSP00000314774.4:p.Leu122Gln
ENST00000541682.6:c.380T>A	ENSP00000446205.2:p.Leu127Gln
ENST00000577735.1:c.356T>A	ENSP00000462491.1:p.Leu119Gln
NM_001165967.1:c.380T>A	NP_001159439.1:p.Leu127Gln
NM_032580.3:c.365T>A	NP_115969.2:p.Leu122Gln
XM_011524038.1:c.485T>A	XP_011522340.1:p.Leu162Gln
XM_011524039.1:c.476T>A	XP_011522341.1:p.Leu159Gln
XM_011524040.1:c.476T>A	XP_011522342.1:p.Leu159Gln
XM_011524041.1:c.467T>A	XP_011522343.1:p.Leu156Gln
XM_011524042.1:c.338T>A	XP_011522344.1:p.Leu113Gln
XR_934203.1:n.69+2070A>T
XM_017025232.1:c.485T>A	XP_016880721.1:p.Leu162Gln
XM_024451007.1:c.485T>A	XP_024306775.1:p.Leu162Gln
NM_001165967.2:c.380T>A MANE Select	NP_001159439.1:p.Leu127Gln
NM_032580.4:c.365T>A	NP_115969.2:p.Leu122Gln