Canonical Allele Identifier: CA397987157

Gene: HES7

Linked Data

• gnomAD v4: 17-8121638-T-A
• MyVariant Identifiers: chr17:g.8024956T>A (hg19) ; chr17:g.8121638T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8121638T>A , CM000679.2:g.8121638T>A	GRCh38
NC_000017.10:g.8024956T>A , CM000679.1:g.8024956T>A	GRCh37
NC_000017.9:g.7965681T>A	NCBI36
NG_015807.1:g.2279A>T
NG_015816.1:g.7455A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541682.7:c.626A>T MANE Select	ENSP00000446205.2:p.His209Leu
ENST00000317814.8:c.611A>T	ENSP00000314774.4:p.His204Leu
ENST00000541682.6:c.626A>T	ENSP00000446205.2:p.His209Leu
NM_001165967.1:c.626A>T	NP_001159439.1:p.His209Leu
NM_032580.3:c.611A>T	NP_115969.2:p.His204Leu
XM_011524038.1:c.731A>T	XP_011522340.1:p.His244Leu
XM_011524039.1:c.722A>T	XP_011522341.1:p.His241Leu
XM_011524040.1:c.722A>T	XP_011522342.1:p.His241Leu
XM_011524041.1:c.713A>T	XP_011522343.1:p.His238Leu
XM_011524042.1:c.584A>T	XP_011522344.1:p.His195Leu
XR_934203.1:n.69+1824T>A
XM_017025232.1:c.731A>T	XP_016880721.1:p.His244Leu
XM_024451007.1:c.731A>T	XP_024306775.1:p.His244Leu
NM_001165967.2:c.626A>T MANE Select	NP_001159439.1:p.His209Leu
NM_032580.4:c.611A>T	NP_115969.2:p.His204Leu