Canonical Allele Identifier: CA8368651

Gene: HES7

Linked Data

• dbSNP Id: rs746077060
• ExAC: 17:8025198 G / T
• gnomAD v2: 17-8025198-G-T
• gnomAD v4: 17-8121880-G-T
• MyVariant Identifiers: chr17:g.8025198G>T (hg19) ; chr17:g.8121880G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8121880G>T , CM000679.2:g.8121880G>T	GRCh38
NC_000017.10:g.8025198G>T , CM000679.1:g.8025198G>T	GRCh37
NC_000017.9:g.7965923G>T	NCBI36
NG_015807.1:g.2037C>A
NG_015816.1:g.7213C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541682.7:c.384C>A MANE Select	ENSP00000446205.2:p.His128Gln
ENST00000317814.8:c.369C>A	ENSP00000314774.4:p.His123Gln
ENST00000541682.6:c.384C>A	ENSP00000446205.2:p.His128Gln
ENST00000577735.1:c.360C>A	ENSP00000462491.1:p.His120Gln
NM_001165967.1:c.384C>A	NP_001159439.1:p.His128Gln
NM_032580.3:c.369C>A	NP_115969.2:p.His123Gln
XM_011524038.1:c.489C>A	XP_011522340.1:p.His163Gln
XM_011524039.1:c.480C>A	XP_011522341.1:p.His160Gln
XM_011524040.1:c.480C>A	XP_011522342.1:p.His160Gln
XM_011524041.1:c.471C>A	XP_011522343.1:p.His157Gln
XM_011524042.1:c.342C>A	XP_011522344.1:p.His114Gln
XR_934203.1:n.69+2066G>T
XM_017025232.1:c.489C>A	XP_016880721.1:p.His163Gln
XM_024451007.1:c.489C>A	XP_024306775.1:p.His163Gln
NM_001165967.2:c.384C>A MANE Select	NP_001159439.1:p.His128Gln
NM_032580.4:c.369C>A	NP_115969.2:p.His123Gln