Canonical Allele Identifier: CA397987204

Gene: HES7

Linked Data

• gnomAD v4: 17-8121647-G-T
• MyVariant Identifiers: chr17:g.8024965G>T (hg19) ; chr17:g.8121647G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8121647G>T , CM000679.2:g.8121647G>T	GRCh38
NC_000017.10:g.8024965G>T , CM000679.1:g.8024965G>T	GRCh37
NC_000017.9:g.7965690G>T	NCBI36
NG_015807.1:g.2270C>A
NG_015816.1:g.7446C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541682.7:c.617C>A MANE Select	ENSP00000446205.2:p.Pro206Gln
ENST00000317814.8:c.602C>A	ENSP00000314774.4:p.Pro201Gln
ENST00000541682.6:c.617C>A	ENSP00000446205.2:p.Pro206Gln
NM_001165967.1:c.617C>A	NP_001159439.1:p.Pro206Gln
NM_032580.3:c.602C>A	NP_115969.2:p.Pro201Gln
XM_011524038.1:c.722C>A	XP_011522340.1:p.Pro241Gln
XM_011524039.1:c.713C>A	XP_011522341.1:p.Pro238Gln
XM_011524040.1:c.713C>A	XP_011522342.1:p.Pro238Gln
XM_011524041.1:c.704C>A	XP_011522343.1:p.Pro235Gln
XM_011524042.1:c.575C>A	XP_011522344.1:p.Pro192Gln
XR_934203.1:n.69+1833G>T
XM_017025232.1:c.722C>A	XP_016880721.1:p.Pro241Gln
XM_024451007.1:c.722C>A	XP_024306775.1:p.Pro241Gln
NM_001165967.2:c.617C>A MANE Select	NP_001159439.1:p.Pro206Gln
NM_032580.4:c.602C>A	NP_115969.2:p.Pro201Gln