Canonical Allele Identifier: CA397987912

Gene: HES7

Linked Data

• MyVariant Identifiers: chr17:g.8025091T>A (hg19) ; chr17:g.8121773T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8121773T>A , CM000679.2:g.8121773T>A	GRCh38
NC_000017.10:g.8025091T>A , CM000679.1:g.8025091T>A	GRCh37
NC_000017.9:g.7965816T>A	NCBI36
NG_015807.1:g.2144A>T
NG_015816.1:g.7320A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541682.7:c.491A>T MANE Select	ENSP00000446205.2:p.His164Leu
ENST00000317814.8:c.476A>T	ENSP00000314774.4:p.His159Leu
ENST00000541682.6:c.491A>T	ENSP00000446205.2:p.His164Leu
NM_001165967.1:c.491A>T	NP_001159439.1:p.His164Leu
NM_032580.3:c.476A>T	NP_115969.2:p.His159Leu
XM_011524038.1:c.596A>T	XP_011522340.1:p.His199Leu
XM_011524039.1:c.587A>T	XP_011522341.1:p.His196Leu
XM_011524040.1:c.587A>T	XP_011522342.1:p.His196Leu
XM_011524041.1:c.578A>T	XP_011522343.1:p.His193Leu
XM_011524042.1:c.449A>T	XP_011522344.1:p.His150Leu
XR_934203.1:n.69+1959T>A
XM_017025232.1:c.596A>T	XP_016880721.1:p.His199Leu
XM_024451007.1:c.596A>T	XP_024306775.1:p.His199Leu
NM_001165967.2:c.491A>T MANE Select	NP_001159439.1:p.His164Leu
NM_032580.4:c.476A>T	NP_115969.2:p.His159Leu