Canonical Allele Identifier: CA397987227

Gene: HES7

Linked Data

• gnomAD v4: 17-8121651-G-T
• MyVariant Identifiers: chr17:g.8024969G>T (hg19) ; chr17:g.8121651G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8121651G>T , CM000679.2:g.8121651G>T	GRCh38
NC_000017.10:g.8024969G>T , CM000679.1:g.8024969G>T	GRCh37
NC_000017.9:g.7965694G>T	NCBI36
NG_015807.1:g.2266C>A
NG_015816.1:g.7442C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541682.7:c.613C>A MANE Select	ENSP00000446205.2:p.Pro205Thr
ENST00000317814.8:c.598C>A	ENSP00000314774.4:p.Pro200Thr
ENST00000541682.6:c.613C>A	ENSP00000446205.2:p.Pro205Thr
NM_001165967.1:c.613C>A	NP_001159439.1:p.Pro205Thr
NM_032580.3:c.598C>A	NP_115969.2:p.Pro200Thr
XM_011524038.1:c.718C>A	XP_011522340.1:p.Pro240Thr
XM_011524039.1:c.709C>A	XP_011522341.1:p.Pro237Thr
XM_011524040.1:c.709C>A	XP_011522342.1:p.Pro237Thr
XM_011524041.1:c.700C>A	XP_011522343.1:p.Pro234Thr
XM_011524042.1:c.571C>A	XP_011522344.1:p.Pro191Thr
XR_934203.1:n.69+1837G>T
XM_017025232.1:c.718C>A	XP_016880721.1:p.Pro240Thr
XM_024451007.1:c.718C>A	XP_024306775.1:p.Pro240Thr
NM_001165967.2:c.613C>A MANE Select	NP_001159439.1:p.Pro205Thr
NM_032580.4:c.598C>A	NP_115969.2:p.Pro200Thr