Canonical Allele Identifier: CA397986790

Gene: HES7

Linked Data

• gnomAD v4: 17-8121571-T-A
• MyVariant Identifiers: chr17:g.8024889T>A (hg19) ; chr17:g.8121571T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8121571T>A , CM000679.2:g.8121571T>A	GRCh38
NC_000017.10:g.8024889T>A , CM000679.1:g.8024889T>A	GRCh37
NC_000017.9:g.7965614T>A	NCBI36
NG_015807.1:g.2346A>T
NG_015816.1:g.7522A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541682.7:c.693A>T MANE Select	ENSP00000446205.2:p.Ter231Cys
ENST00000317814.8:c.678A>T	ENSP00000314774.4:p.Ter226Cys
ENST00000541682.6:c.693A>T	ENSP00000446205.2:p.Ter231Cys
NM_001165967.1:c.693A>T	NP_001159439.1:p.Ter231Cys
NM_032580.3:c.678A>T	NP_115969.2:p.Ter226Cys
XM_011524038.1:c.798A>T	XP_011522340.1:p.Ter266Cys
XM_011524039.1:c.789A>T	XP_011522341.1:p.Ter263Cys
XM_011524040.1:c.789A>T	XP_011522342.1:p.Ter263Cys
XM_011524041.1:c.780A>T	XP_011522343.1:p.Ter260Cys
XM_011524042.1:c.651A>T	XP_011522344.1:p.Ter217Cys
XR_934203.1:n.69+1757T>A
XM_017025232.1:c.798A>T	XP_016880721.1:p.Ter266Cys
XM_024451007.1:c.798A>T	XP_024306775.1:p.Ter266Cys
NM_001165967.2:c.693A>T MANE Select	NP_001159439.1:p.Ter231Cys
NM_032580.4:c.678A>T	NP_115969.2:p.Ter226Cys