Canonical Allele Identifier: CA397987012

Gene: HES7

Linked Data

• gnomAD v4: 17-8121612-G-T
• MyVariant Identifiers: chr17:g.8024930G>T (hg19) ; chr17:g.8121612G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8121612G>T , CM000679.2:g.8121612G>T	GRCh38
NC_000017.10:g.8024930G>T , CM000679.1:g.8024930G>T	GRCh37
NC_000017.9:g.7965655G>T	NCBI36
NG_015807.1:g.2305C>A
NG_015816.1:g.7481C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541682.7:c.652C>A MANE Select	ENSP00000446205.2:p.Pro218Thr
ENST00000317814.8:c.637C>A	ENSP00000314774.4:p.Pro213Thr
ENST00000541682.6:c.652C>A	ENSP00000446205.2:p.Pro218Thr
NM_001165967.1:c.652C>A	NP_001159439.1:p.Pro218Thr
NM_032580.3:c.637C>A	NP_115969.2:p.Pro213Thr
XM_011524038.1:c.757C>A	XP_011522340.1:p.Pro253Thr
XM_011524039.1:c.748C>A	XP_011522341.1:p.Pro250Thr
XM_011524040.1:c.748C>A	XP_011522342.1:p.Pro250Thr
XM_011524041.1:c.739C>A	XP_011522343.1:p.Pro247Thr
XM_011524042.1:c.610C>A	XP_011522344.1:p.Pro204Thr
XR_934203.1:n.69+1798G>T
XM_017025232.1:c.757C>A	XP_016880721.1:p.Pro253Thr
XM_024451007.1:c.757C>A	XP_024306775.1:p.Pro253Thr
NM_001165967.2:c.652C>A MANE Select	NP_001159439.1:p.Pro218Thr
NM_032580.4:c.637C>A	NP_115969.2:p.Pro213Thr